McKusick's Online Mendelian Inheritance in Man (OMIM).

McKusick's Online Mendelian Inheritance in Man (OMIM).
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DOI:
10.1093/nar/gkn665
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发表时间:
2009-01
影响因子:
14.9
通讯作者:
Hamosh A
Hamosh A
中科院分区:
生物学2区
文献类型:
--
作者:
Amberger J;Bocchini CA;Scott AF;Hamosh A

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McKusick在人类中的在线Mendelian继承(Omim®; http://www.ncbi.nlm.nih.gov/omim)是人类基因和表型的知识库,最初是在1966年出版的,是男人的孟德尔利亚人的书籍。 OMIM的内容仅来自已发表的生物医学文献,并每天更新。引起疾病的突变,3770种疾病的分子基础。
McKusick's Online Mendelian Inheritance in Man (OMIM®; 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® is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.