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Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

The spatial distribution of genetic variation within proteins is shaped by evolutionary constraint and provides insight into the functional importance of protein regions and the potential pathogenicity of protein alterations. Here, we comprehensively evaluate the 3D spatial patterns of human germlin...

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Detalles Bibliográficos
Publicado en:Am J Hum Genet
Main Authors: Sivley, R. Michael, Dou, Xiaoyi, Meiler, Jens, Bush, William S., Capra, John A.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985282/
https://ncbi.nlm.nih.gov/pubmed/29455857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.01.017
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