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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Detalles Bibliográficos
Autores principales: Tripathi, Swarnendu, Dsouza, Nikita R, Urrutia, Raul, Zimmermann, Michael T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208742/
https://www.ncbi.nlm.nih.gov/pubmed/33226070
http://dx.doi.org/10.1093/bioinformatics/btaa972

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208742/
https://www.ncbi.nlm.nih.gov/pubmed/33226070
http://dx.doi.org/10.1093/bioinformatics/btaa972

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