OMIM.org: leveraging knowledge across phenotype–gene relationships
Author:
Affiliation:
1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Funder
National Institutes of Health
Publisher
Oxford University Press (OUP)
Link
http://academic.oup.com/nar/article-pdf/47/D1/D1038/27437659/gky1151.pdf
Reference12 articles.
1. Mendelian Inheritance in Man
2. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res.,2015
3. PubTator: a web-based text mining tool for assisting biocuration;Wei;Nucleic Acids Res.,2013
4. Aligning knowledge sources in the UMLS: methods, quantitative results, and applications;Bodenreider;Stud. Health Technol. Inform.,2004
5. The Human Phenotype Ontology in 2017;Köhler;Nucleic Acids Res.,2017
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