ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins

Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 21% of disease...

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Detalles Bibliográficos
Autores principales: Krassowski, Michal, Paczkowska, Marta, Cullion, Kim, Huang, Tina, Dzneladze, Irakli, Ouellette, B F Francis, Yamada, Joseph T, Fradet-Turcotte, Amelie, Reimand, Jüri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Database Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753267/
https://www.ncbi.nlm.nih.gov/pubmed/29126202
http://dx.doi.org/10.1093/nar/gkx973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753267/
https://www.ncbi.nlm.nih.gov/pubmed/29126202
http://dx.doi.org/10.1093/nar/gkx973

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