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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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Bibliographische Detailangaben
Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Sivley, R. Michael, Dou, Xiaoyi, Meiler, Jens, Bush, William S., Capra, John A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2018
Schlagworte:
Online Zugang: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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