期刊
NUCLEIC ACIDS RESEARCH
卷 37, 期 -, 页码 D793-D796出版社
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkn665
关键词
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资金
- The National Human Genome Research Institute
- National Library of Medicine
- [National Library of Medicine (to OMIM(R)). Funding for open access charge: N01LM43504]
McKusick's Online Mendelian Inheritance in Man (OMIM (R); http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18 961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM (R) is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.
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