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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Ranking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established, however, that different parts of proteins can have different functions, suggesting that it will ultimately be more informative to focus attention...

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Publicado en:Genome Biol
Main Authors: Gussow, Ayal B., Petrovski, Slavé, Wang, Quanli, Allen, Andrew S., Goldstein, David B.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717634/
https://ncbi.nlm.nih.gov/pubmed/26781712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-016-0869-4
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