Identification of pathogenic variant enriched regions across genes and gene families

Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene-family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2871 gene-family protein sequence alignments involving 9...

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Bibliografski detalji
Izdano u:Genome Res
Glavni autori: Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2020
Teme:
Method
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961572/
https://ncbi.nlm.nih.gov/pubmed/31871067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.252601.119
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