OMIM.org: leveraging knowledge across phenotype–gene relationships

Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics. It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be the primary repository of curated information on...

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Bibliographic Details
Published in:Nucleic acids research Vol. 47; no. D1; pp. D1038 - D1043
Main Authors: Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada
Format: Journal Article
Language:English
Published: England Oxford University Press 08.01.2019
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ISSN:0305-1048, 1362-4962, 1362-4962
Online Access:Get full text
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