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10021369
[ "Identification", "of", "APC2", ",", "a", "homologue", "of", "the", "adenomatous", "polyposis", "coli", "tumour", "suppressor", ".", "The", "adenomatous", "polyposis", "coli", "(", "APC", ")", "tumour", "-", "suppressor", "protein", "controls", "the", "Wnt", "...
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10051005
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10051007
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100562
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10064668
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10071185
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10071193
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10072428
[ "Germline", "E", "-", "cadherin", "gene", "(", "CDH1", ")", "mutations", "predispose", "to", "familial", "gastric", "cancer", "and", "colorectal", "cancer", ".", "Inherited", "mutations", "in", "the", "E", "-", "cadherin", "gene", "(", "CDH1", ")", "were", ...
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10077614
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10077651
[ "Mechanism", "of", "increased", "iron", "absorption", "in", "murine", "model", "of", "hereditary", "hemochromatosis", ":", "increased", "duodenal", "expression", "of", "the", "iron", "transporter", "DMT1", ".", "Hereditary", "hemochromatosis", "(", "HH", ")", "is"...
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10078732
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10078749
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10083733
[ "Germline", "mutations", "of", "the", "APC", "gene", "in", "Korean", "familial", "adenomatous", "polyposis", "patients", ".", "We", "extensively", "analyzed", "genomic", "DNA", "and", "messenger", "RNA", "(", "mRNA", ")", "from", "62", "unrelated", "Korean", "...
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10083734
[ "Molecular", "epidemiology", "of", "C9", "deficiency", "heterozygotes", "with", "an", "Arg95Stop", "mutation", "of", "the", "C9", "gene", "in", "Japan", ".", "Deficiency", "of", "the", "ninth", "component", "of", "human", "complement", "(", "C9", ")", "is", ...
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10085150
[ "The", "hereditary", "hemochromatosis", "protein", ",", "HFE", ",", "specifically", "regulates", "transferrin", "-", "mediated", "iron", "uptake", "in", "HeLa", "cells", ".", "HFE", "is", "the", "protein", "product", "of", "the", "gene", "mutated", "in", "the"...
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10090880
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10090885
[ "Autoimmune", "lymphoproliferative", "syndrome", "with", "defective", "Fas", ":", "genotype", "influences", "penetrance", ".", "Autoimmune", "lymphoproliferative", "syndrome", "(", "ALPS", ")", "is", "a", "disorder", "of", "lymphocyte", "homeostasis", "and", "immunolo...
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10090890
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10094552
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10094559
[ "Identification", "of", "the", "mutation", "in", "the", "alkaptonuria", "mouse", "model", ".", "Alkaptonuria", "(", "aku", ")", ",", "an", "inborn", "error", "of", "metabolism", "caused", "by", "the", "loss", "of", "homogentisate", "1", ",", "2", "-", "dio...
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10190331
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10190819
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10192393
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10192399
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10194428
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10196379
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10196381
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10198641
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10200300
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10205262
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10208848
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10210128
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10213492
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10220405
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10430930
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10434119
[ "Linkage", "analysis", "of", "5", "novel", "van", "der", "Woude", "syndrome", "kindreds", "to", "1q32", "-", "q41", "markers", "further", "supports", "locus", "homogeneity", "of", "the", "disease", "trait", ".", "van", "der", "Woude", "syndrome", "(", "vWS",...
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10441329
[ "Null", "mutation", "of", "the", "murine", "ATP7B", "(", "Wilson", "disease", ")", "gene", "results", "in", "intracellular", "copper", "accumulation", "and", "late", "-", "onset", "hepatic", "nodular", "transformation", ".", "The", "Atp7b", "protein", "is", "a...
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10441343
[ "French", "Machado", "-", "Joseph", "disease", "patients", "do", "not", "exhibit", "gametic", "segregation", "distortion", ":", "a", "sperm", "typing", "analysis", ".", "Segregation", "distortion", "has", "been", "reported", "to", "occur", "in", "a", "number", ...
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10441571
[ "Missense", "mutation", "in", "the", "alternative", "splice", "region", "of", "the", "PAX6", "gene", "in", "eye", "anomalies", ".", "The", "PAX6", "gene", "is", "involved", "in", "ocular", "morphogenesis", ",", "and", "PAX6", "mutations", "have", "been", "de...
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10441573
[ "Penetrances", "of", "BRCA1", "1675delA", "and", "1135insA", "with", "respect", "to", "breast", "cancer", "and", "ovarian", "cancer", ".", "For", "genetic", "counseling", "and", "predictive", "testing", "in", "families", "with", "inherited", "breast", "-", "ovar...
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10446987
[ "The", "dermatofibrosarcoma", "protuberans", "-", "associated", "collagen", "type", "Ialpha1", "/", "platelet", "-", "derived", "growth", "factor", "(", "PDGF", ")", "B", "-", "chain", "fusion", "gene", "generates", "a", "transforming", "protein", "that", "is", ...
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10447258
[ "Identification", "of", "a", "common", "PEX1", "mutation", "in", "Zellweger", "syndrome", ".", "The", "Zellweger", "spectrum", "of", "disease", ",", "encompassing", "Zellweger", "syndrome", "and", "the", "progressively", "milder", "phenotypes", "of", "neonatal", "...
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10447259
[ "Novel", "mutations", "in", "the", "Wiskott", "-", "Aldrich", "syndrome", "protein", "gene", "and", "their", "effects", "on", "transcriptional", ",", "translational", ",", "and", "clinical", "phenotypes", ".", "Wiskott", "-", "Aldrich", "syndrome", "(", "WAS", ...
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Benchmark dataset NCBI

This dataset was generated by the Data preprocessing step of the NERFAIR workflow (More information: https://github.com/YasCoMa/ner-fair-workflow )

Original dataset: Doğan, Rezarta Islamaj, Robert Leaman, and Zhiyong Lu. 2014. “NCBI Disease Corpus: A Resource for Disease Name Recognition and Concept Normalization.” Journal of Biomedical Informatics 47 (February): 1–10.

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