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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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Pubblicato in:Am J Hum Genet
Autori principali: Sivley, R. Michael, Dou, Xiaoyi, Meiler, Jens, Bush, William S., Capra, John A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Accesso online: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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