yasmmin/ncbi_nerfair_processed · Datasets at Hugging Face

id stringlengths 5 8	tokens listlengths 53 590	ner_tags listlengths 53 590
3615198	[ "GT", "to", "AT", "transition", "at", "a", "splice", "donor", "site", "causes", "skipping", "of", "the", "preceding", "exon", "in", "phenylketonuria", ".", "Classical", "Phenylketonuria", "(", "PKU", ")", "is", "an", "autosomal", "recessive", "human", "genetic...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 4, 0, 3, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3659917	[ "Conservation", "of", "the", "Duchenne", "muscular", "dystrophy", "gene", "in", "mice", "and", "humans", ".", "A", "portion", "of", "the", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "gene", "transcript", "from", "human", "fetal", "skeletal", "muscle...	[ 0, 0, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3674116	[ "Familial", "Prader", "-", "Willi", "syndrome", "with", "apparently", "normal", "chromosomes", ".", "We", "report", "on", "4", "sibs", "(", "2F", ",", "2M", ")", "with", "Prader", "-", "Willi", "syndrome", "(", "PWS", ")", ".", "Diagnosis", "was", "made"...	[ 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3678494	[ "Nebulin", "and", "titin", "expression", "in", "Duchenne", "muscular", "dystrophy", "appears", "normal", ".", "Monoclonal", "antibodies", "which", "recognize", "different", "epitopes", "on", "either", "titin", "or", "nebulin", "show", "normal", "staining", "patterns...	[ 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3718019	[ "Heterozygous", "C2", "deficiency", "associated", "with", "angioedema", ",", "myasthenia", "gravis", ",", "and", "systemic", "lupus", "erythematosus", ".", "We", "describe", "a", "patient", "with", "myasthenia", "gravis", ",", "systemic", "lupus", "erythematosus", ...	[ 3, 4, 4, 0, 0, 3, 0, 3, 4, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 0, 0, 3, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3789016	[ "Genetic", "analysis", "of", "an", "inherited", "deficiency", "of", "the", "third", "component", "of", "complement", "in", "Brittany", "spaniel", "dogs", ".", "Genetically", "determined", "C3", "deficiency", "in", "Brittany", "spaniel", "dogs", "shares", "a", "n...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3856322	[ "Gene", "transfer", "and", "expression", "of", "human", "phenylalanine", "hydroxylase", ".", "Phenylketonuria", "(", "PKU", ")", "is", "caused", "by", "a", "genetic", "deficiency", "of", "the", "enzyme", "phenylalanine", "hydroxylase", "(", "PAH", ")", ".", "A...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3862128	[ "Regional", "mapping", "of", "the", "phenylalanine", "hydroxylase", "gene", "and", "the", "phenylketonuria", "locus", "in", "the", "human", "genome", ".", "Phenylketonuria", "(", "PKU", ")", "is", "an", "autosomal", "recessive", "disorder", "of", "amino", "acid"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3876122	[ "Heterogeneity", "of", "type", "I", "von", "Willebrand", "disease", ":", "evidence", "for", "a", "subgroup", "with", "an", "abnormal", "von", "Willebrand", "factor", ".", "Type", "I", "von", "Willebrand", "disease", "(", "vWD", ")", "is", "characterized", "b...	[ 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 3, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
4019732	[ "Genetic", "analysis", "in", "families", "with", "van", "der", "Woude", "syndrome", ".", "We", "have", "brought", "together", "information", "on", "864", "affected", "individuals", "in", "164", "families", "(", "including", "three", "new", "pedigrees", ")", "r...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0...
409732	[ "Hereditary", "C7", "deficiency", ".", "Diagnosis", "and", "HLA", "studies", "in", "a", "French", "-", "Canadian", "family", ".", "The", "serum", "of", "a", "44", "-", "yr", "-", "old", "woman", "of", "French", "-", "Canadian", "descent", "having", "a", ...	[ 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
492335	[ "Genetic", "defect", "in", "secretion", "of", "complement", "C5", "in", "mice", ".", "A", "genetic", "deficiency", "of", "the", "fifth", "(", "C5", ")", "component", "of", "complement1", "-", "3", ",", "a", "serum", "glycoprotein", "of", "molecular", "weig...	[ 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
492812	[ "Recurrent", "meningococcal", "meningitis", "with", "absence", "of", "the", "sixth", "component", "of", "complement", ":", "an", "evaluation", "of", "underlying", "immunologic", "mechanisms", ".", "A", "51", "/", "2", "-", "year", "-", "old", "black", "girl", ...	[ 0, 3, 4, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 0, 0, 0, 0, 0...
495634	[ "Deficiency", "of", "the", "fifth", "component", "of", "complement", "in", "human", "subjects", ".", "Clinical", ",", "genetic", "and", "immunologic", "studies", "in", "a", "large", "kindred", ".", "The", "discovery", "of", "a", "large", "kindred", "with", "...	[ 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
511159	[ "Incidence", "and", "characteristics", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "variants", "in", "Japan", ".", "A", "total", "of", "3000", "men", "living", "in", "Yamaguchi", "were", "screened", "for", "glucose", "-", "6", "-", "phospha...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
523196	[ "Utilization", "of", "purines", "by", "an", "HPRT", "variant", "in", "an", "intelligent", ",", "nonmutilative", "patient", "with", "features", "of", "the", "Lesch", "-", "Nyhan", "syndrome", ".", "The", "patient", ",", "H", ".", "Chr", ".", "B", ".", ","...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6086495	[ "Localisation", "of", "the", "Becker", "muscular", "dystrophy", "gene", "on", "the", "short", "arm", "of", "the", "X", "chromosome", "by", "linkage", "to", "cloned", "DNA", "sequences", ".", "A", "linkage", "study", "in", "30", "Becker", "muscular", "dystrop...	[ 0, 0, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0...
6087154	[ "Molecular", "evidence", "for", "new", "mutation", "at", "the", "hprt", "locus", "in", "Lesch", "-", "Nyhan", "patients", ".", "Hypoxanthine", "-", "guanine", "phosphoribosyltransferase", "(", "HPRT", ";", "EC2", ".", "4", ".", "2", ".", "8", ")", ",", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0...
6101415	[ "Allelic", "exclusion", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "in", "platelets", "and", "T", "lymphocytes", "from", "a", "Wiskott", "-", "Aldrich", "syndrome", "carrier", ".", "An", "obligate", "carrier", "of", "the", "Wiskott", "-", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6103091	[ "Complement", "deficiency", "and", "nephritis", ".", "A", "report", "of", "a", "family", ".", "A", "family", "is", "described", "in", "which", "three", "children", "had", "homozygous", "deficiency", "of", "C3", "and", "in", "which", "both", "parents", "and",...	[ 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0...
624546	[ "Heterogeneity", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "deficiency", "in", "Algeria", ".", "Study", "in", "Northern", "Algeria", "with", "description", "of", "five", "new", "variants", ".", "Glucose", "-", "6", "-", "phosphate", "dehydr...	[ 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6337374	[ "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "deficiency", "inhibits", "in", "vitro", "growth", "of", "Plasmodium", "falciparum", ".", "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ";", "EC", "1", ".", "1", ".", "1", ".", ...	[ 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0...
6387532	[ "Bone", "marrow", "transplant", "in", "adrenoleukodystrophy", ".", "An", "allogeneic", "bone", "marrow", "transplant", "(", "BMT", ")", "from", "a", "normal", "HLA", "identical", "sibling", "donor", "was", "performed", "in", "a", "13", "-", "year", "-", "old...	[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0...
6453040	[ "[", "Gd", "-", "allele", "distribution", "patterns", "in", "Azerbaijan", ".", "III", ".", "The", "identification", "of", "mutant", "forms", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "]", "In", "28", "families", "with", "G6PD", "deficienc...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6524872	[ "Adrenoleukodystrophy", ":", "survey", "of", "303", "cases", ":", "biochemistry", ",", "diagnosis", ",", "and", "therapy", ".", "Adrenoleukodystrophy", "(", "ALD", ")", "is", "a", "genetically", "determined", "disorder", "associated", "with", "progressive", "centr...	[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6540752	[ "Genetic", "polymorphism", "of", "G6PD", "in", "a", "Bulgarian", "population", ".", "Considerable", "genetic", "heterogeneity", "in", "G6PD", "was", "found", "in", "the", "Bulgarian", "population", "-", "14", "G6PD", "variants", "isolated", "from", "117", "hemiz...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6585184	[ "Clinical", "use", "of", "DNA", "markers", "linked", "to", "the", "gene", "for", "Duchenne", "muscular", "dystrophy", ".", "Seventy", "families", "with", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "known", "to", "the", "Institute", "of", "Child", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6604602	[ "Family", "studies", "in", "Bechterew", "'", "s", "syndrome", "(", "ankylosing", "spondylitis", ")", "III", ".", "Genetics", ".", "The", "results", "of", "segregation", "analyses", "in", "75", "families", "where", "the", "proband", "had", "ankylosing", "spondy...	[ 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6618488	[ "Prader", "-", "Willi", "syndrome", "and", "chromosome", "15", ".", "A", "clinical", "discussion", "of", "20", "cases", ".", "A", "chromosome", "15", "anomaly", "was", "observed", "in", "12", "of", "20", "patients", ",", "17", "of", "whom", "were", "clin...	[ 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0...
6650504	[ "The", "Tay", "-", "Sachs", "disease", "gene", "in", "North", "American", "Jewish", "populations", ":", "geographic", "variations", "and", "origin", ".", "From", "data", "collected", "in", "a", "North", "American", "Tay", "-", "Sachs", "disease", "(", "TSD",...	[ 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 7, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6783144	[ "Human", "deficiency", "of", "the", "sixth", "component", "of", "complement", "in", "a", "patient", "with", "meningococcal", "meningitis", "and", "no", "haemostasis", "abnormality", ".", "A", "case", "of", "human", "complete", "C6", "deficiency", "is", "reported...	[ 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
6859721	[ "Absence", "of", "the", "seventh", "component", "of", "complement", "in", "a", "patient", "with", "chronic", "meningococcemia", "presenting", "as", "vasculitis", ".", "A", "previously", "healthy", "40", "-", "year", "-", "old", "man", "presenting", "with", "fe...	[ 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4...
6902670	[ "Familial", "discoid", "lupus", "erythematosus", "associated", "with", "heterozygote", "C2", "deficiency", ".", "Two", "siblings", "with", "chronic", "discoid", "lupus", "erythematosus", "and", "several", "family", "members", "were", "found", "with", "heterozygous", ...	[ 3, 4, 4, 4, 0, 0, 0, 3, 4, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7055648	[ "Severe", "-", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "deficiency", "associated", "with", "chronic", "hemolytic", "anemia", ",", "granulocyte", "dysfunction", ",", "and", "increased", "susceptibility", "to", "infections", ":", ...	[ 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 3, 4, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4...
7076260	[ "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "deficiency", "in", "Papua", "New", "Guinea", ".", "The", "description", "of", "13", "new", "variants", ".", "A", "total", "of", "362", "males", "from", "various", "regions", "of", "Papua", "New", "Gu...	[ 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7106752	[ "Heterogeneity", "of", "\"", "Mediterranean", "type", "\"", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "deficiency", "in", "Spain", "and", "description", "of", "two", "new", "variants", "associated", "with", "favism", ".", "Gluco...	[ 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7166314	[ "A", "new", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "variant", "(", "G6PD", "Nagano", ")", "associated", "with", "congenital", "hemolytic", "anemia", ".", "A", "new", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0...
7191069	[ "Heterozygous", "C2", "-", "deficiency", "and", "myasthenia", "gravis", ".", "Complement", "deficiency", "states", "in", "myasthenia", "gravis", "(", "MG", ")", "have", "not", "been", "reported", "previously", ".", "We", "describe", "a", "19", "-", "year", "...	[ 0, 3, 4, 4, 0, 3, 4, 0, 7, 8, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
7202134	[ "Adrenoleukodystrophy", ":", "increased", "plasma", "content", "of", "saturated", "very", "long", "chain", "fatty", "acids", ".", "With", "a", "new", "method", "we", "measured", "the", "saturated", "very", "long", "chain", "fatty", "acids", "in", "the", "plasm...	[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 7, 0, 0, 0, 7, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7298854	[ "Abnormal", "high", "density", "lipoproteins", "in", "cerebrotendinous", "xanthomatosis", ".", "The", "plasma", "lipoprotein", "profiles", "and", "high", "density", "lipoproteins", "(", "HDL", ")", "were", "characterized", "in", "patients", "with", "the", "genetic",...	[ 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 3, 4, 0, 3, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7315872	[ "Genetics", "of", "cerebrotendinous", "xanthomatosis", "(", "CTX", ")", ":", "an", "autosomal", "recessive", "trait", "with", "high", "gene", "frequency", "in", "Sephardim", "of", "Moroccan", "origin", ".", "We", "described", "6", "patients", "(", "from", "3",...	[ 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7316485	[ "New", "genetic", "variants", "of", "glucose", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "in", "Italy", ".", "Six", "new", "variants", "of", "human", "erythrocyte", "G6PD", "have", "been", "characterized", ".", "All", "of", "them", "were", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7390473	[ "Variants", "of", "erythrocyte", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "in", "Bulgarian", "populations", ".", "Ten", "variants", "of", "erythrocyte", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "were", "identified"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7422429	[ "Nephropathy", "in", "the", "Wiskott", "-", "Aldrich", "syndrome", ".", "Nephropathy", "was", "detected", "in", "five", "of", "32", "patients", "with", "the", "Wiskott", "-", "Aldrich", "syndrome", "who", "were", "participating", "in", "a", "study", "of", "t...	[ 3, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0...
7437512	[ "Wiskott", "-", "Aldrich", "syndrome", ":", "cellular", "impairments", "and", "their", "implication", "for", "carrier", "detection", ".", "A", "family", "in", "which", "two", "male", "siblings", "were", "affected", "with", "Wiskott", "-", "Aldrich", "syndrome", ...	[ 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7444053	[ "A", "new", "CT", "pattern", "in", "adrenoleukodystrophy", ".", "A", "new", "CT", "pattern", "was", "observed", "in", "2", "patients", "with", "adrenoleukodystrophy", "(", "ALD", ")", ".", "This", "pattern", ",", "which", "the", "authors", "call", "Type", ...	[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7450778	[ "Further", "evidence", "for", "heterogeneity", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "deficiency", "in", "Papua", "New", "Guinea", ".", "Four", "new", "G6PD", "variants", "have", "been", "characterized", "in", "individuals", "from", "Papu...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7458742	[ "Increased", "incidence", "of", "cataracts", "in", "male", "subjects", "deficient", "in", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", ".", "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "deficiency", "in", "RBCs", "was", ...	[ 0, 0, 0, 3, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 7, 8, 8...
7479827	[ "Molecular", "basis", "of", "human", "mitochondrial", "very", "-", "long", "-", "chain", "acyl", "-", "CoA", "dehydrogenase", "deficiency", "causing", "cardiomyopathy", "and", "sudden", "death", "in", "childhood", ".", "beta", "-", "Oxidation", "of", "long", "...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 3, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 3...
7481765	[ "Aberrant", "subcellular", "localization", "of", "BRCA1", "in", "breast", "cancer", ".", "The", "BRCA1", "gene", "product", "was", "identified", "as", "a", "220", "-", "kilodalton", "nuclear", "phosphoprotein", "in", "normal", "cells", ",", "including", "breast"...	[ 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0...
7490097	[ "Mapping", "of", "the", "mouse", "homologue", "of", "the", "Wilson", "disease", "gene", "to", "mouse", "chromosome", "8", ".", "ATP7B", ",", "the", "gene", "altered", "in", "Wilson", "disease", "(", "WD", ")", "patients", ",", "lies", "in", "a", "block",...	[ 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7493024	[ "Germline", "mutations", "of", "the", "BRCA1", "gene", "in", "breast", "and", "ovarian", "cancer", "families", "provide", "evidence", "for", "a", "genotype", "-", "phenotype", "correlation", ".", "Mutations", "in", "the", "BRCA1", "gene", ",", "discovered", "i...	[ 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 6, 6, 0, 0, 0, 0...
7523157	[ "Hereditary", "deficiency", "of", "the", "seventh", "component", "of", "complement", "and", "recurrent", "meningococcal", "infection", ":", "investigations", "of", "an", "Irish", "family", "using", "a", "novel", "haemolytic", "screening", "assay", "for", "complement...	[ 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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7543316	[ "Myotonic", "dystrophy", ":", "evidence", "for", "a", "possible", "dominant", "-", "negative", "RNA", "mutation", ".", "The", "trinucleotide", "expansion", "mutation", "causing", "myotonic", "dystrophy", "is", "in", "the", "3", "untranslated", "region", "of", "a...	[ 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7545954	[ "A", "strong", "candidate", "for", "the", "breast", "and", "ovarian", "cancer", "susceptibility", "gene", "BRCA1", ".", "A", "strong", "candidate", "for", "the", "17q", "-", "linked", "BRCA1", "gene", ",", "which", "influences", "susceptibility", "to", "breast...	[ 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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7550230	[ "Three", "novel", "aniridia", "mutations", "in", "the", "human", "PAX6", "gene", ".", "Aniridia", "(", "iris", "hypoplasia", ")", "is", "an", "autosomal", "dominant", "congenital", "disorder", "of", "the", "eye", ".", "Mutations", "in", "the", "human", "anir...	[ 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 4, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3...
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7568002	[ "Identification", "and", "localization", "of", "huntingtin", "in", "brain", "and", "human", "lymphoblastoid", "cell", "lines", "with", "anti", "-", "fusion", "protein", "antibodies", ".", "The", "Huntington", "disease", "(", "HD", ")", "phenotype", "is", "associ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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409732

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6086495

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6101415

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6103091

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624546

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6387532

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6453040

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6524872

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6540752

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6585184

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6604602

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6618488

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6650504

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6859721

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6902670

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7055648

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7076260

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7106752

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7166314

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7191069

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7202134

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7298854

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7315872

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7316485

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7390473

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7422429

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7437512

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7444053

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7450778

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7458742

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7479827

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7481765

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7490097

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7493024

[ "Germline", "mutations", "of", "the", "BRCA1", "gene", "in", "breast", "and", "ovarian", "cancer", "families", "provide", "evidence", "for", "a", "genotype", "-", "phenotype", "correlation", ".", "Mutations", "in", "the", "BRCA1", "gene", ",", "discovered", "i...

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7523157

[ "Hereditary", "deficiency", "of", "the", "seventh", "component", "of", "complement", "and", "recurrent", "meningococcal", "infection", ":", "investigations", "of", "an", "Irish", "family", "using", "a", "novel", "haemolytic", "screening", "assay", "for", "complement...

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7535801

[ "Molecular", "basis", "of", "subtotal", "complement", "C6", "deficiency", ".", "A", "carboxy", "-", "terminally", "truncated", "but", "functionally", "active", "C6", ".", "Individuals", "with", "subtotal", "complement", "C6", "deficiency", "possess", "a", "C6", ...

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7543316

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7545954

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7550229

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7550230

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7550349

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7568002

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7573040

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7574457

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7579347

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7581380

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7586656

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