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Properties of human genes guided by their enrichment in rare and common variants

We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease‐causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein‐coding genes. Three novel sets of genes were ident...

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Publicat a:Hum Mutat
Autors principals: Alhuzimi, Eman, Leal, Luis G., Sternberg, Michael J.E., David, Alessia
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838408/
https://ncbi.nlm.nih.gov/pubmed/29197136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23377
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