The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Ranking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established, however, that different parts of proteins can have different functions, suggesting that it will ultimately be more informative to focus attention...

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Detalles Bibliográficos
Autores principales: Gussow, Ayal B., Petrovski, Slavé, Wang, Quanli, Allen, Andrew S., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717634/
https://www.ncbi.nlm.nih.gov/pubmed/26781712
http://dx.doi.org/10.1186/s13059-016-0869-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717634/
https://www.ncbi.nlm.nih.gov/pubmed/26781712
http://dx.doi.org/10.1186/s13059-016-0869-4

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