yasmmin/ncbi_nerfair_processed · Datasets at Hugging Face

id stringlengths 5 8	tokens listlengths 53 590	ner_tags listlengths 53 590
1968617	[ "A", "single", "origin", "of", "phenylketonuria", "in", "Yemenite", "Jews", ".", "Phenylketonuria", "(", "PKU", ")", "is", "a", "metabolic", "disease", "caused", "by", "recessive", "mutations", "of", "the", "gene", "encoding", "the", "hepatic", "enzyme", "phen...	[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 1, 2, 0, 0, 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, 0, 0, 0, 0, 0, 0...
1973404	[ "Linkage", "of", "aspartylglucosaminuria", "(", "AGU", ")", "to", "marker", "loci", "on", "the", "long", "arm", "of", "chromosome", "4", ".", "Aspartylglucosaminuria", "(", "AGU", ")", "is", "caused", "by", "deficient", "activity", "of", "the", "enzyme", "as...	[ 0, 0, 3, 0, 3, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
1975560	[ "Linkage", "relationships", "of", "the", "apolipoprotein", "C1", "gene", "and", "a", "cytochrome", "P450", "gene", "(", "CYP2A", ")", "to", "myotonic", "dystrophy", ".", "We", "have", "studied", "the", "genetic", "linkage", "of", "two", "markers", ",", "the"...	[ 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, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0...
1978564	[ "Genetic", "linkage", "map", "of", "six", "polymorphic", "DNA", "markers", "around", "the", "gene", "for", "familial", "adenomatous", "polyposis", "on", "chromosome", "5", ".", "A", "genetic", "linkage", "map", "of", "six", "polymorphic", "DNA", "markers", "cl...	[ 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, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...
1981994	[ "Serum", "amyloid", "A", "and", "P", "protein", "genes", "in", "familial", "Mediterranean", "fever", ".", "Two", "recent", "studies", "have", "suggested", "the", "involvement", "of", "serum", "amyloid", "A", "(", "SAA", ")", "and", "P", "(", "APCS", ")", ...	[ 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, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
1999339	[ "Some", "Mexican", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "variants", "revisited", ".", "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "deficiency", "appears", "to", "be", "fairly", "common", "in", "Mexico", ".", "...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
1999552	[ "Hereditary", "deficiency", "of", "C5", "in", "association", "with", "discoid", "lupus", "erythematosus", ".", "A", "29", "-", "year", "-", "old", "woman", "with", "discoid", "lupus", "erythematosus", "had", "undetectable", "classic", "pathway", "complement", "a...	[ 0, 3, 4, 4, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 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, 3, 4, 4, 0, 3...
2006152	[ "Founder", "effect", "of", "a", "prevalent", "phenylketonuria", "mutation", "in", "the", "Oriental", "population", ".", "A", "missense", "mutation", "has", "been", "identified", "in", "the", "human", "phenylalanine", "hydroxylase", "[", "PAH", ";", "phenylalanine"...	[ 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, 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...
2008213	[ "Glucose", "/", "galactose", "malabsorption", "caused", "by", "a", "defect", "in", "the", "Na", "+", "/", "glucose", "cotransporter", ".", "Glucose", "/", "galactose", "malabsorption", "(", "GGM", ")", "is", "an", "autosomal", "recessive", "disease", "manifest...	[ 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 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, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0...
2016095	[ "A", "de", "novo", "unbalanced", "reciprocal", "translocation", "identified", "as", "paternal", "in", "origin", "in", "the", "Prader", "-", "Willi", "syndrome", ".", "Interstitial", "cytogenetic", "deletions", "involving", "the", "paternally", "derived", "chromosome...	[ 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, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2037285	[ "Localisation", "of", "the", "myotonic", "dystrophy", "locus", "to", "19q13", ".", "2", "-", "19q13", ".", "3", "and", "its", "relationship", "to", "twelve", "polymorphic", "loci", "on", "19q", ".", "The", "order", "of", "fourteen", "polymorphic", "markers",...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2055114	[ "Localization", "of", "histidase", "to", "human", "chromosome", "region", "12q22", "-", "-", "-", "-", "q24", ".", "1", "and", "mouse", "chromosome", "region", "10C2", "-", "-", "-", "-", "D1", ".", "The", "human", "gene", "for", "histidase", "(", "his...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2071157	[ "Determination", "of", "the", "mutations", "responsible", "for", "the", "Lesch", "-", "Nyhan", "syndrome", "in", "17", "subjects", ".", "Hypoxanthine", "-", "-", "guanine", "phosphoribosyltransferase", "(", "HPRT", ")", "is", "a", "purine", "salvage", "enzyme", ...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2161209	[ "Linkage", "of", "DNA", "markers", "at", "Xq28", "to", "adrenoleukodystrophy", "and", "adrenomyeloneuropathy", "present", "within", "the", "same", "family", ".", "We", "present", "a", "large", "kindred", "that", "contained", "patients", "with", "either", "adrenole...	[ 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, 3, 0, 3, 0, 0, 3, 0, 3, 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...
2180286	[ "Skewed", "X", "inactivation", "in", "a", "female", "MZ", "twin", "results", "in", "Duchenne", "muscular", "dystrophy", ".", "One", "of", "female", "MZ", "twins", "presented", "with", "muscular", "dystrophy", ".", "Physical", "examination", ",", "creatine", "p...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 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, 3, 4, 4, 4, 4, 0, 0, 0, 0...
218453	[ "Adrenoleukodystrophy", "and", "adrenomyeloneuropathy", "associated", "with", "partial", "adrenal", "insufficiency", "in", "three", "generations", "of", "a", "kindred", ".", "Four", "cases", "of", "adrenoleukodystrophy", "(", "ALD", ")", "and", "one", "case", "of", ...	[ 3, 0, 3, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2209091	[ "Regional", "localisation", "of", "the", "Friedreich", "ataxia", "locus", "to", "human", "chromosome", "9q13", "-", "-", "-", "-", "q21", ".", "1", ".", "We", "have", "previously", "assigned", "the", "Friedreich", "ataxia", "locus", "(", "FRDA", ")", "to",...	[ 0, 0, 0, 0, 7, 8, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2215607	[ "Increased", "high", "-", "density", "lipoprotein", "levels", "caused", "by", "a", "common", "cholesteryl", "-", "ester", "transfer", "protein", "gene", "mutation", ".", "BACKGROUND", "AND", "METHODS", ".", "The", "plasma", "cholesteryl", "-", "ester", "transfer...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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...
2220826	[ "Further", "mapping", "of", "an", "ataxia", "-", "telangiectasia", "locus", "to", "the", "chromosome", "11q23", "region", ".", "We", "recently", "mapped", "the", "gene", "for", "ataxia", "-", "telangiectasia", "group", "A", "(", "ATA", ")", "to", "chromosome...	[ 0, 0, 0, 0, 7, 8, 8, 0, 0, 0, 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, 0, 0...
2241452	[ "Recurrent", "meningitis", "in", "a", "patient", "with", "congenital", "deficiency", "of", "the", "C9", "component", "of", "complement", ".", "First", "case", "of", "C9", "deficiency", "in", "Europe", ".", "We", "describe", "the", "first", "cases", ",", "to"...	[ 0, 3, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 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...
2253937	[ "Detection", "of", "98", "%", "of", "DMD", "/", "BMD", "gene", "deletions", "by", "polymerase", "chain", "reaction", ".", "We", "describe", "oligonucleotide", "primer", "sequences", "that", "can", "be", "used", "to", "amplify", "eight", "exons", "plus", "the...	[ 0, 0, 0, 0, 0, 7, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2253938	[ "Genetic", "heterogeneity", "at", "the", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "locus", "in", "southern", "Italy", ":", "a", "study", "on", "a", "population", "from", "the", "Matera", "district", ".", "Glucose", "-", "6", "-", "phosphate", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2303408	[ "Deficiency", "of", "the", "murine", "fifth", "complement", "component", "(", "C5", ")", ".", "A", "2", "-", "base", "pair", "gene", "deletion", "in", "a", "5", "'", "-", "exon", ".", "To", "ascertain", "the", "molecular", "mechanism", "that", "causes", ...	[ 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, 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...
2309142	[ "Molecular", "genetics", "of", "PKU", "in", "eastern", "Europe", ":", "a", "nonsense", "mutation", "associated", "with", "haplotype", "4", "of", "the", "phenylalanine", "hydroxylase", "gene", ".", "Phenylketonuria", "(", "PKU", ")", "is", "a", "genetic", "diso...	[ 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 1, 2, 0, 0, 0, 3, 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...
2309698	[ "The", "red", "-", "green", "visual", "pigment", "gene", "region", "in", "adrenoleukodystrophy", ".", "Although", "recent", "data", "established", "that", "a", "specific", "very", "-", "long", "-", "chain", "fatty", "acyl", "-", "CoA", "synthetase", "is", "d...	[ 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, 3, 4, 4, 4, 0, 3, 0, 0, 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...
2310692	[ "Paroxysmal", "nocturnal", "haemoglobinuria", "with", "coexisting", "deficiency", "of", "the", "ninth", "component", "of", "complement", ":", "lack", "of", "massive", "haemolytic", "attack", ".", "A", "47", "-", "year", "-", "old", "woman", "with", "paroxysmal",...	[ 3, 4, 4, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 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...
2316519	[ "Duplicational", "mutation", "at", "the", "Duchenne", "muscular", "dystrophy", "locus", ":", "its", "frequency", ",", "distribution", ",", "origin", ",", "and", "phenotypegenotype", "correlation", ".", "Partial", "gene", "deletion", "is", "the", "major", "cause", ...	[ 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, 3, 4, 4, 0, 3, 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...
23402	[ "Glucose", "6", "-", "phosphate", "dehydrogenase", "variants", ":", "Gd", "(", "+", ")", "Alexandra", "associated", "with", "neonatal", "jaundice", "and", "Gd", "(", "-", ")", "Camperdown", "in", "a", "young", "man", "with", "lamellar", "cataracts", ".", "...	[ 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, 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, 3, 4, 0, 0, 0, 0, 0...
2352258	[ "Statistical", "analysis", "of", "the", "two", "stage", "mutation", "model", "in", "von", "Hippel", "-", "Lindau", "disease", ",", "and", "in", "sporadic", "cerebellar", "haemangioblastoma", "and", "renal", "cell", "carcinoma", ".", "Analysis", "of", "the", "a...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 3, 4, 4, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2355960	[ "Screening", "for", "carriers", "of", "Tay", "-", "Sachs", "disease", "among", "Ashkenazi", "Jews", ".", "A", "comparison", "of", "DNA", "-", "based", "and", "enzyme", "-", "based", "tests", ".", "BACKGROUND", "AND", "METHODS", ".", "The", "prevention", "o...	[ 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, 3, 4, 4, 4, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0...
2390095	[ "Total", "deficiency", "of", "plasma", "cholesteryl", "ester", "transfer", "protein", "in", "subjects", "homozygous", "and", "heterozygous", "for", "the", "intron", "14", "splicing", "defect", ".", "The", "molecular", "basis", "of", "cholesteryl", "ester", "transf...	[ 3, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 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...
2393028	[ "Molecular", "genetics", "of", "the", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "Mediterranean", "variant", "and", "description", "of", "a", "new", "G6PD", "mutant", ",", "G6PD", "Andalus1361A", ".", "Glucose", "-", "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, 3, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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2989709	[ "DNA", "restriction", "fragments", "associated", "with", "alpha", "1", "-", "antitrypsin", "indicate", "a", "single", "origin", "for", "deficiency", "allele", "PI", "Z", ".", "The", "alpha", "1", "-", "protease", "inhibitor", ",", "or", "alpha", "-", "antitr...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
2995231	[ "Segregation", "analysis", "of", "a", "marker", "localised", "Xp21", ".", "2", "-", "Xp21", ".", "3", "in", "Duchenne", "and", "Becker", "muscular", "dystrophy", "families", ".", "A", "DNA", "marker", "C7", ",", "localised", "Xp21", ".", "1", "-", "Xp21"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 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, 3, 4, 4, 0, 3, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...
3012567	[ "Isolation", "of", "molecular", "probes", "associated", "with", "the", "chromosome", "15", "instability", "in", "the", "Prader", "-", "Willi", "syndrome", ".", "Flow", "cytometry", "and", "recombinant", "DNA", "techniques", "have", "been", "used", "to", "obtain"...	[ 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, 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...
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3029599	[ "A", "potential", "animal", "model", "for", "Lesch", "-", "Nyhan", "syndrome", "through", "introduction", "of", "HPRT", "mutations", "into", "mice", ".", "The", "human", "Lesch", "-", "Nyhan", "syndrome", "is", "a", "rare", "neurological", "and", "behavioural"...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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...
3032521	[ "Re", "-", "evaluation", "of", "the", "sublocalization", "of", "esterase", "D", "and", "its", "relation", "to", "the", "retinoblastoma", "locus", "by", "in", "situ", "hybridization", ".", "In", "situ", "hybridization", "of", "a", "cDNA", "probe", "for", "the...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
313733	[ "Hereditary", "C2", "deficiency", "associated", "with", "common", "variable", "immunodeficiency", ".", "Homozygous", "C2", "deficiency", "in", "a", "19", "-", "year", "-", "old", "boy", "was", "associated", "with", "variable", "immunodeficiency", "manifested", "by...	[ 3, 4, 4, 0, 0, 0, 0, 1, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 1, 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, 0, 0, 0, 0, 0...
3162536	[ "Mild", "and", "severe", "muscular", "dystrophy", "associated", "with", "deletions", "in", "Xp21", "of", "the", "human", "X", "chromosome", ".", "We", "have", "analysed", "over", "300", "patients", "suffering", "from", "Duchenne", "or", "Becker", "muscular", "...	[ 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 6, 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...
3169738	[ "Patterns", "of", "exon", "deletions", "in", "Duchenne", "and", "Becker", "muscular", "dystrophy", ".", "A", "panel", "of", "patients", "with", "Duchenne", "and", "Becker", "muscular", "dystrophy", "(", "DMD", "and", "BMD", ")", "has", "been", "screened", "w...	[ 0, 0, 0, 0, 0, 5, 6, 6, 6, 6, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 6, 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, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
318684	[ "Hereditary", "deficiency", "of", "the", "third", "component", "of", "complement", "in", "a", "child", "with", "fever", ",", "skin", "rash", ",", "and", "arthralgias", ":", "response", "to", "transfusion", "of", "whole", "blood", ".", "A", "previously", "wel...	[ 3, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3198117	[ "Glucose", "-", "6", "-", "phosphate", "dehydrogenase", "variants", "and", "their", "frequency", "in", "Guangdong", ",", "China", ".", "Erythrocyte", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "was", "characterized", "in", "blood...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3258663	[ "Homozygous", "and", "heterozygous", "deletions", "of", "the", "von", "Willebrand", "factor", "gene", "in", "patients", "and", "carriers", "of", "severe", "von", "Willebrand", "disease", ".", "Severe", "von", "Willebrand", "disease", "is", "characterized", "by", ...	[ 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 4, 4, 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, 0, 0, 0...
3343337	[ "Sjogren", "-", "Larsson", "syndrome", ".", "Impaired", "fatty", "alcohol", "oxidation", "in", "cultured", "fibroblasts", "due", "to", "deficient", "fatty", "alcohol", ":", "nicotinamide", "adenine", "dinucleotide", "oxidoreductase", "activity", ".", "Lipid", "metab...	[ 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, 1, 2, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3346017	[ "Germinal", "mosaicism", "in", "Duchenne", "muscular", "dystrophy", ".", "We", "have", "identified", "a", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "pedigree", "where", "the", "disease", "is", "associated", "with", "a", "molecular", "deletion", "with...	[ 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 7, 8, 8, 0, 7, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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3347839	[ "Expression", "of", "the", "murine", "Duchenne", "muscular", "dystrophy", "gene", "in", "muscle", "and", "brain", ".", "Complementary", "DNA", "clones", "were", "isolated", "that", "represent", "the", "5", "terminal", "2", ".", "5", "kilobases", "of", "the", ...	[ 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, 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...
3348216	[ "Glucose", "6", "-", "phosphate", "dehydrogenase", "deficiency", "and", "incidence", "of", "hematologic", "malignancy", ".", "We", "have", "evaluated", "the", "hypothesis", "of", "a", "negative", "association", "between", "glucose", "6", "-", "phosphate", "dehydro...	[ 3, 4, 4, 4, 4, 4, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
3354603	[ "Hepatoblastoma", ",", "pigmented", "ocular", "fundus", "lesions", "and", "jaw", "lesions", "in", "Gardner", "syndrome", ".", "Hepatoblastoma", "is", "a", "rare", "neoplasm", "of", "infants", "and", "children", "only", "recently", "documented", "in", "association"...	[ 3, 0, 1, 2, 2, 2, 0, 1, 2, 0, 3, 4, 0, 3, 0, 0, 0, 1, 0, 0, 0, 0, 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, 3, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0...
3362213	[ "Identification", "of", "an", "altered", "splice", "site", "in", "Ashkenazi", "Tay", "-", "Sachs", "disease", ".", "Tay", "-", "Sachs", "disease", "is", "an", "autosomal", "recessive", "genetic", "disorder", "resulting", "from", "mutation", "of", "the", "HEXA"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 4, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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3455778	[ "Retroviral", "-", "mediated", "gene", "transfer", "of", "human", "phenylalanine", "hydroxylase", "into", "NIH", "3T3", "and", "hepatoma", "cells", ".", "Phenylketonuria", "(", "PKU", ")", "is", "caused", "by", "deficiency", "of", "the", "hepatic", "enzyme", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 3, 0, 3, 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...
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3480530	[ "Deletions", "of", "a", "DNA", "sequence", "in", "retinoblastomas", "and", "mesenchymal", "tumors", ":", "organization", "of", "the", "sequence", "and", "its", "encoded", "protein", ".", "Retinoblastoma", "is", "a", "childhood", "tumor", "that", "can", "arise", ...	[ 0, 0, 0, 0, 0, 0, 3, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 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, 0, 0...
3524231	[ "Treatment", "of", "Duchenne", "muscular", "dystrophy", "with", "growth", "hormone", "inhibitors", ".", "A", "controlled", ",", "double", "-", "blind", "therapeutic", "trial", "with", "the", "drug", "mazindol", ",", "a", "growth", "hormone", "inhibitor", ",", ...	[ 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, 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...
3563511	[ "Identification", "and", "localization", "of", "mutations", "at", "the", "Lesch", "-", "Nyhan", "locus", "by", "ribonuclease", "A", "cleavage", ".", "Many", "mutations", "leading", "to", "human", "disease", "are", "the", "result", "of", "single", "DNA", "base"...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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3572301	[ "Sialophorin", ",", "a", "surface", "sialoglycoprotein", "defective", "in", "the", "Wiskott", "-", "Aldrich", "syndrome", ",", "is", "involved", "in", "human", "T", "lymphocyte", "proliferation", ".", "The", "mAb", "L10", "was", "used", "to", "determine", "the...	[ 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, 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, 0, 0, 0, 0...
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2253938

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2562820

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2563633

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2568588

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2569949

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2571579

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2575071

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2575483

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2591962

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2703233

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2729274

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2760209

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2773936

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2786201

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2792129

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2817003

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2828430

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2835825

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2852474

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2862466

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2884570

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2886237

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2894613

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2895982

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2910902

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2912069

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2912886

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2927388

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2963536

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2989709

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2995231

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3012567

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3014348

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3029599

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3032521

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313733

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3162536

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3169738

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318684

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3198117

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3258663

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3343337

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3346017

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3346018

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3347839

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3348216

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3354603

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3362213

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3377761

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3393536

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3417303

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3422216

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3455778

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3464560

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3480530

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3524231

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3563511

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3565372

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3572301

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3578281

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3591825

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3600793

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3600794

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