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The 3D mutational constraint on amino acid sites in the human proteome

Quantification of the tolerance of protein sites to genetic variation has become a cornerstone of variant interpretation. We hypothesize that the constraint on missense variation at individual amino acid sites is largely shaped by direct interactions with 3D neighboring sites. To quantify this const...

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Detalles Bibliográficos
Autores principales: Li, Bian, Roden, Dan M., Capra, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174330/
https://www.ncbi.nlm.nih.gov/pubmed/35672414
http://dx.doi.org/10.1038/s41467-022-30936-x

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