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

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...

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Detalles Bibliográficos
Autores principales: Amberger, Joanna, Bocchini, Carol A., Scott, Alan F., Hamosh, Ada
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686440/
https://www.ncbi.nlm.nih.gov/pubmed/18842627
http://dx.doi.org/10.1093/nar/gkn665
Descripción
Sumario: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.

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