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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...
Autores principales: | Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323937/ https://www.ncbi.nlm.nih.gov/pubmed/30445645 http://dx.doi.org/10.1093/nar/gky1151 |
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