yasmmin/ncbi_nerfair_processed · Datasets at Hugging Face

id stringlengths 5 8	tokens listlengths 53 590	ner_tags listlengths 53 590
7874163	[ "CAG", "expansions", "in", "a", "novel", "gene", "for", "Machado", "-", "Joseph", "disease", "at", "chromosome", "14q32", ".", "1", ".", "We", "have", "identified", "a", "novel", "gene", "containing", "CAG", "repeats", "and", "mapped", "it", "to", "chromos...	[ 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, 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...
7894491	[ "Mutations", "in", "the", "BRCA1", "gene", "in", "families", "with", "early", "-", "onset", "breast", "and", "ovarian", "cancer", ".", "We", "analysed", "50", "probands", "with", "a", "family", "history", "of", "breast", "and", "/", "or", "ovarian", "cance...	[ 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, 5, 6, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7894493	[ "Confirmation", "of", "BRCA1", "by", "analysis", "of", "germline", "mutations", "linked", "to", "breast", "and", "ovarian", "cancer", "in", "ten", "families", ".", "We", "provide", "genetic", "evidence", "supporting", "the", "identity", "of", "the", "candidate",...	[ 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, 7, 8, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7909252	[ "High", "resolution", "genetic", "analysis", "suggests", "one", "ancestral", "predisposing", "haplotype", "for", "the", "origin", "of", "the", "myotonic", "dystrophy", "mutation", ".", "The", "mutation", "causing", "myotonic", "dystrophy", "(", "DM", ")", "has", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 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, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7937795	[ "Genetic", "instability", "in", "human", "ovarian", "cancer", "cell", "lines", ".", "We", "have", "analyzed", "the", "stability", "of", "microsatellites", "in", "cell", "lines", "derived", "from", "human", "ovarian", "cancers", "and", "found", "that", "5", "ou...	[ 0, 0, 0, 0, 7, 8, 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, 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, 3...
7939630	[ "BRCA1", "mutations", "in", "primary", "breast", "and", "ovarian", "carcinomas", ".", "Loss", "of", "heterozygosity", "data", "from", "familial", "tumors", "suggest", "that", "BRCA1", ",", "a", "gene", "that", "confers", "susceptibility", "to", "ovarian", "and",...	[ 0, 0, 0, 0, 5, 6, 6, 6, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 6, 6, 6, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7951315	[ "PAX6", "gene", "dosage", "effect", "in", "a", "family", "with", "congenital", "cataracts", ",", "aniridia", ",", "anophthalmia", "and", "central", "nervous", "system", "defects", ".", "The", "human", "eye", "malformation", "aniridia", "results", "from", "haploi...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 3, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 3, 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, 3, 0, 0, 0, 0, 0, 0, 3, 4, 0...
7951316	[ "A", "physical", "map", "and", "candidate", "genes", "in", "the", "BRCA1", "region", "on", "chromosome", "17q12", "-", "21", ".", "We", "have", "constructed", "a", "physical", "map", "of", "a", "4", "cM", "region", "on", "chromosome", "17q12", "-", "21",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 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...
7951327	[ "The", "LEC", "rat", "has", "a", "deletion", "in", "the", "copper", "transporting", "ATPase", "gene", "homologous", "to", "the", "Wilson", "disease", "gene", ".", "The", "Long", "-", "Evans", "Cinnamon", "(", "LEC", ")", "rat", "shows", "similarity", "to",...	[ 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, 3, 4, 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...
7959759	[ "Genomic", "organization", "of", "the", "adrenoleukodystrophy", "gene", ".", "Adrenoleukodystrophy", "(", "ALD", ")", ",", "the", "most", "frequent", "peroxisomal", "disorder", ",", "is", "a", "severe", "neurodegenerative", "disease", "associated", "with", "an", "...	[ 0, 0, 0, 0, 7, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 2, 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...
7959767	[ "The", "murine", "homologues", "of", "the", "Huntington", "disease", "gene", "(", "Hdh", ")", "and", "the", "alpha", "-", "adducin", "gene", "(", "Add1", ")", "map", "to", "mouse", "chromosome", "5", "within", "a", "region", "of", "conserved", "synteny", ...	[ 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, 3, 4, 0, 3, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7962532	[ "Genetic", "cholesteryl", "ester", "transfer", "protein", "deficiency", "caused", "by", "two", "prevalent", "mutations", "as", "a", "major", "determinant", "of", "increased", "levels", "of", "high", "density", "lipoprotein", "cholesterol", ".", "Genetic", "determina...	[ 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, 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, 0, 0, 0, 0...
7964884	[ "Treatment", "of", "cerebrotendinous", "xanthomatosis", ":", "effects", "of", "chenodeoxycholic", "acid", ",", "pravastatin", ",", "and", "combined", "use", ".", "Treatments", "by", "oral", "administration", "of", "chenodeoxycholic", "acid", "(", "CDCA", ")", "alo...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0...
7981671	[ "Mutation", "spectrum", "in", "the", "CHM", "gene", "of", "Danish", "and", "Swedish", "choroideremia", "patients", ".", "The", "recent", "isolation", "of", "the", "complete", "open", "reading", "frame", "of", "the", "choroideremia", "(", "CHM", ")", "gene", ...	[ 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 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, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
7991123	[ "Predominance", "of", "the", "adrenomyeloneuropathy", "phenotype", "of", "X", "-", "linked", "adrenoleukodystrophy", "in", "The", "Netherlands", ":", "a", "survey", "of", "30", "kindreds", ".", "X", "-", "linked", "adrenoleukodystrophy", "(", "X", "-", "ALD", ...	[ 0, 0, 0, 7, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 4, 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, 1, 0, 0, 5, 6, 6, 6, 6...
8002973	[ "Adrenoleukodystrophy", "gene", "encodes", "an", "80", "kDa", "membrane", "protein", ".", "An", "antibody", "against", "the", "synthetic", "C", "-", "terminal", "peptides", "deduced", "from", "the", "cDNA", "of", "the", "gene", "responsible", "for", "X", "-", ...	[ 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, 3, 4, 4, 4, 0, 3, 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...
8004674	[ "Isolation", "of", "the", "gene", "for", "McLeod", "syndrome", "that", "encodes", "a", "novel", "membrane", "transport", "protein", ".", "McLeod", "syndrome", "is", "an", "X", "-", "linked", "multisystem", "disorder", "characterized", "by", "abnormalities", "in"...	[ 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 1, 2, 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, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8012387	[ "X", "-", "linked", "spastic", "paraplegia", "and", "Pelizaeus", "-", "Merzbacher", "disease", "are", "allelic", "disorders", "at", "the", "proteolipid", "protein", "locus", ".", "Three", "forms", "of", "X", "-", "linked", "spastic", "paraplegia", "(", "SPG", ...	[ 3, 4, 4, 4, 4, 0, 3, 4, 4, 4, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 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, 1, 2, 2, 2, 2, 0, 0...
8023850	[ "Canavan", "disease", ":", "mutations", "among", "Jewish", "and", "non", "-", "Jewish", "patients", ".", "Canavan", "disease", "is", "an", "autosomal", "recessive", "leukodystrophy", "caused", "by", "the", "deficiency", "of", "aspartoacylase", "(", "ASPA", ")", ...	[ 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 1, 2, 2, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8071955	[ "Intelligence", "quotient", "profile", "in", "myotonic", "dystrophy", ",", "intergenerational", "deficit", ",", "and", "correlation", "with", "CTG", "amplification", ".", "An", "abbreviated", "Wechsler", "Adult", "Intelligence", "Scale", "Revised", "(", "WAIS", "-",...	[ 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, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3...
8071957	[ "Adenomatous", "polyposis", "coli", "and", "a", "cytogenetic", "deletion", "of", "chromosome", "5", "resulting", "from", "a", "maternal", "intrachromosomal", "insertion", ".", "We", "present", "the", "clinical", "and", "laboratory", "findings", "in", "an", "instit...	[ 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, 3, 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...
8075631	[ "Familial", "male", "breast", "cancer", "is", "not", "linked", "to", "the", "BRCA1", "locus", "on", "chromosome", "17q", ".", "Breast", "cancer", "in", "men", "is", "about", "a", "hundredfold", "less", "common", "than", "in", "women", "and", "this", "has",...	[ 3, 4, 4, 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, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 7, 8, 8, 8, 8, 0, 0, 0...
8084618	[ "The", "EWS", "gene", ",", "involved", "in", "Ewing", "family", "of", "tumors", ",", "malignant", "melanoma", "of", "soft", "parts", "and", "desmoplastic", "small", "round", "cell", "tumors", ",", "codes", "for", "an", "RNA", "binding", "protein", "with", ...	[ 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 2, 2, 2, 2, 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, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 4, 0, 0, 0...
8088831	[ "Canavan", "disease", ":", "genomic", "organization", "and", "localization", "of", "human", "ASPA", "to", "17p13", "-", "ter", "and", "conservation", "of", "the", "ASPA", "gene", "during", "evolution", ".", "Canavan", "disease", ",", "or", "spongy", "degenerat...	[ 3, 4, 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, 3, 4, 4, 4, 4, 0, 0, 0, 0, 3, 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, 3, 4...
8098180	[ "Myotonic", "dystrophy", ":", "size", "-", "and", "sex", "-", "dependent", "dynamics", "of", "CTG", "meiotic", "instability", ",", "and", "somatic", "mosaicism", ".", "Myotonic", "dystrophy", "(", "DM", ")", "is", "a", "progressive", "neuromuscular", "disorder...	[ 3, 4, 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, 1, 2, 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...
8098245	[ "Illegitimate", "transcription", "of", "the", "phenylalanine", "hydroxylase", "gene", "in", "lymphocytes", "for", "identification", "of", "mutations", "in", "phenylketonuria", ".", "Taking", "advantage", "of", "the", "illegitimate", "transcription", "of", "the", "phen...	[ 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, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8101038	[ "High", "residual", "arylsulfatase", "A", "(", "ARSA", ")", "activity", "in", "a", "patient", "with", "late", "-", "infantile", "metachromatic", "leukodystrophy", ".", "We", "identified", "a", "patient", "suffering", "from", "late", "-", "infantile", "metachroma...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 3, 4, 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, 7, 8, 0, 0, 0...
8104633	[ "An", "arylsulfatase", "A", "(", "ARSA", ")", "missense", "mutation", "(", "T274M", ")", "causing", "late", "-", "infantile", "metachromatic", "leukodystrophy", ".", "Metachromatic", "leukodystrophy", "(", "MLD", ")", "is", "an", "autosomal", "recessive", "lysos...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 3, 4, 0, 3, 0, 0, 0, 1, 2, 2, 2, 2, 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, 3, 4...
8111379	[ "Mutations", "in", "the", "PAX6", "gene", "in", "patients", "with", "hereditary", "aniridia", ".", "The", "14", "exons", "of", "the", "PAX6", "gene", "have", "been", "analysed", "exon", "-", "by", "-", "exon", "using", "SSCP", "in", "6", "aniridia", "fam...	[ 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, 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...
8113388	[ "Three", "novel", "mutations", "in", "five", "unrelated", "subjects", "with", "hereditary", "protein", "S", "deficiency", "type", "I", ".", "A", "panel", "of", "eight", "unrelated", "subjects", "with", "inherited", "type", "I", "protein", "S", "deficiency", "w...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8116611	[ "Characteristics", "of", "intergenerational", "contractions", "of", "the", "CTG", "repeat", "in", "myotonic", "dystrophy", ".", "In", "myotonic", "dystrophy", "(", "DM", ")", ",", "the", "size", "of", "a", "CTG", "repeat", "in", "the", "DM", "kinase", "gene"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 3, 4, 0, 3, 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, 7, 0, 0...
8128954	[ "Gonosomal", "mosaicism", "in", "myotonic", "dystrophy", "patients", ":", "involvement", "of", "mitotic", "events", "in", "(", "CTG", ")", "n", "repeat", "variation", "and", "selection", "against", "extreme", "expansion", "in", "sperm", ".", "Myotonic", "dystrop...	[ 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, 3, 4, 0, 3, 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...
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8460149	[ "Targeted", "modification", "of", "the", "apolipoprotein", "B", "gene", "results", "in", "hypobetalipoproteinemia", "and", "developmental", "abnormalities", "in", "mice", ".", "Familial", "hypobetalipoproteinemia", "is", "an", "autosomal", "codominant", "disorder", "res...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 1, 2, 0, 0, 0, 3, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0...
8466512	[ "A", "novel", "disease", "with", "deficiency", "of", "mitochondrial", "very", "-", "long", "-", "chain", "acyl", "-", "CoA", "dehydrogenase", ".", "Palmitoyl", "-", "CoA", "dehydrogenase", "activity", "in", "skin", "fibroblasts", "from", "seven", "patients", "...	[ 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, 0, 0, 0, 0, 0, 0, 0, 0...
8471773	[ "Molecular", "characterization", "of", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "(", "G6PD", ")", "deficiency", "in", "patients", "of", "Chinese", "descent", "and", "identification", "of", "new", "base", "substitutions", "in", "the", "human", "G6P...	[ 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, 7, 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...
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8522307	[ "Somatic", "von", "Hippel", "-", "Lindau", "mutation", "in", "clear", "cell", "papillary", "cystadenoma", "of", "the", "epididymis", ".", "Papillary", "cystadenoma", "of", "the", "epididymis", "is", "an", "uncommon", "benign", "lesion", "that", "may", "occur", ...	[ 0, 7, 8, 8, 8, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 3, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8528198	[ "Identification", "of", "WASP", "mutations", "in", "patients", "with", "Wiskott", "-", "Aldrich", "syndrome", "and", "isolated", "thrombocytopenia", "reveals", "allelic", "heterogeneity", "at", "the", "WAS", "locus", ".", "Mutation", "in", "the", "gene", "encoding...	[ 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 0, 0, 0, 0, 0, 7, 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, 4, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0...
8528199	[ "WASP", "gene", "mutations", "in", "Wiskott", "-", "Aldrich", "syndrome", "and", "X", "-", "linked", "thrombocytopenia", ".", "The", "WASP", "gene", "has", "been", "recently", "cloned", "from", "Xp11", ".", "23", "and", "shown", "to", "be", "mutated", "in"...	[ 0, 0, 0, 0, 3, 4, 4, 4, 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, 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...
8528200	[ "Evidence", "for", "inter", "-", "generational", "instability", "in", "the", "CAG", "repeat", "in", "the", "MJD1", "gene", "and", "for", "conserved", "haplotypes", "at", "flanking", "markers", "amongst", "Japanese", "and", "Caucasian", "subjects", "with", "Macha...	[ 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8530105	[ "A", "4", "-", "megabase", "YAC", "contig", "that", "spans", "the", "Langer", "-", "Giedion", "syndrome", "region", "on", "human", "chromosome", "8q24", ".", "1", ":", "use", "in", "refining", "the", "location", "of", "the", "trichorhinophalangeal", "syndrom...	[ 0, 0, 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, 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...
8531967	[ "BRCA1", "mutations", "in", "a", "population", "-", "based", "sample", "of", "young", "women", "with", "breast", "cancer", ".", "BACKGROUND", ".", "Inherited", "mutations", "in", "the", "BRCA1", "gene", "are", "associated", "with", "a", "high", "risk", "of",...	[ 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, 5, 6, 6, 6, 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...
8533757	[ "Novel", "inherited", "mutations", "and", "variable", "expressivity", "of", "BRCA1", "alleles", ",", "including", "the", "founder", "mutation", "185delAG", "in", "Ashkenazi", "Jewish", "families", ".", "Thirty", "-", "seven", "families", "with", "four", "or", "m...	[ 0, 0, 0, 0, 0, 0, 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, 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...
8533762	[ "A", "new", "glucose", "-", "6", "-", "phosphate", "dehydrogenase", "variant", ",", "G6PD", "Orissa", "(", "44", "Ala", "-", "-", ">", "Gly", ")", ",", "is", "the", "major", "polymorphic", "variant", "in", "tribal", "populations", "in", "India", ".", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0...
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8563759	[ "Brca1", "deficiency", "results", "in", "early", "embryonic", "lethality", "characterized", "by", "neuroepithelial", "abnormalities", ".", "The", "breast", "and", "ovarian", "cancer", "susceptibility", "gene", ",", "BRCA1", ",", "has", "been", "cloned", "and", "sh...	[ 3, 4, 0, 0, 0, 1, 2, 0, 0, 1, 2, 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, 0, 0, 0, 5, 6, 6, 6, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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8566965	[ "The", "murine", "homolog", "of", "the", "human", "breast", "and", "ovarian", "cancer", "susceptibility", "gene", "Brca1", "maps", "to", "mouse", "chromosome", "11D", ".", "The", "recently", "cloned", "human", "breast", "and", "ovarian", "cancer", "susceptibilit...	[ 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0...
8571951	[ "Atelosteogenesis", "type", "II", "is", "caused", "by", "mutations", "in", "the", "diastrophic", "dysplasia", "sulfate", "-", "transporter", "gene", "(", "DTDST", ")", ":", "evidence", "for", "a", "phenotypic", "series", "involving", "three", "chondrodysplasias", ...	[ 3, 4, 4, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 3, 4, 4, 0, 3, 4, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0...
8571953	[ "Haplotype", "and", "phenotype", "analysis", "of", "six", "recurrent", "BRCA1", "mutations", "in", "61", "families", ":", "results", "of", "an", "international", "study", ".", "Several", "BRCA1", "mutations", "have", "now", "been", "found", "to", "occur", "in"...	[ 0, 0, 0, 0, 0, 0, 0, 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, 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...
8575748	[ "Isolation", "of", "the", "mouse", "homologue", "of", "BRCA1", "and", "genetic", "mapping", "to", "mouse", "chromosome", "11", ".", "The", "BRCA1", "gene", "is", "in", "large", "part", "responsible", "for", "hereditary", "human", "breast", "and", "ovarian", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
8589715	[ "Emerin", "deficiency", "at", "the", "nuclear", "membrane", "in", "patients", "with", "Emery", "-", "Dreifuss", "muscular", "dystrophy", ".", "Mutations", "in", "the", "STA", "gene", "at", "the", "Xq28", "locus", "have", "been", "found", "in", "patients", "w...	[ 3, 4, 0, 0, 0, 0, 0, 0, 0, 3, 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, 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...
8589721	[ "Growth", "retardation", "and", "tumour", "inhibition", "by", "BRCA1", ".", "Inherited", "mutations", "in", "BRCA1", "predispose", "to", "breast", "and", "ovarian", "cancer", ",", "but", "the", "role", "of", "BRCA1", "in", "sporadic", "breast", "and", "ovarian...	[ 1, 2, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 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, 7, 8, 8, 8, 0, 0, 0, 0, 0...
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8589723	[ "Ovarian", "cancer", "risk", "in", "BRCA1", "carriers", "is", "modified", "by", "the", "HRAS1", "variable", "number", "of", "tandem", "repeat", "(", "VNTR", ")", "locus", ".", "Women", "who", "carry", "a", "mutation", "in", "the", "BRCA1", "gene", "(", "...	[ 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, 3, 4, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
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8002973

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8071955

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8071957

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8075631

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8434621

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8440142

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8441467

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8460149

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8466512

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8471773

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8477262

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8499920

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8500791

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8522307

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8528198

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8528199

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8528200

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8530105

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8531967

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8533757

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8533762

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8533768

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8551426

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8554067

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8563759

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8566952

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8566965

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8571951

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8571953

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8575748

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8589715

[ "Emerin", "deficiency", "at", "the", "nuclear", "membrane", "in", "patients", "with", "Emery", "-", "Dreifuss", "muscular", "dystrophy", ".", "Mutations", "in", "the", "STA", "gene", "at", "the", "Xq28", "locus", "have", "been", "found", "in", "patients", "w...

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8589721

[ "Growth", "retardation", "and", "tumour", "inhibition", "by", "BRCA1", ".", "Inherited", "mutations", "in", "BRCA1", "predispose", "to", "breast", "and", "ovarian", "cancer", ",", "but", "the", "role", "of", "BRCA1", "in", "sporadic", "breast", "and", "ovarian...

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8589722

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8589723

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8595416

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8605116

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8621452

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8622978

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8625410

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8636252

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