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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course of evolution are probably benign in humans. H...

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Veröffentlicht in:Genet Med
Hauptverfasser: Adebali, Ogun, Reznik, Alexander O., Ory, Daniel S., Zhulin, Igor B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990510/
https://ncbi.nlm.nih.gov/pubmed/26890452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.208
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