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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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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Krassowski, Michal, Paczkowska, Marta, Cullion, Kim, Huang, Tina, Dzneladze, Irakli, Ouellette, B F Francis, Yamada, Joseph T, Fradet-Turcotte, Amelie, Reimand, Jüri
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753267/
https://ncbi.nlm.nih.gov/pubmed/29126202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx973
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