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OMIM.org: leveraging knowledge across phenotype–gene relationships

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 both gen...

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Dettagli Bibliografici
Pubblicato in:Nucleic Acids Res
Autori principali: Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2019
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323937/
https://ncbi.nlm.nih.gov/pubmed/30445645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky1151
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