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Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations

MOTIVATION: Protein-coding genetic alterations are frequently observed in Clinical Genetics, but the high yield of variants of uncertain significance remains a limitation in decision making. RAS-family GTPases are cancer drivers, but only 54 variants, across all family members, fall within well-know...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Tripathi, Swarnendu, Dsouza, Nikita R, Urrutia, Raul, Zimmermann, Michael T
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8208742/
https://ncbi.nlm.nih.gov/pubmed/33226070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa972
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