Article

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

2017-08-20

Abstract excerpt

Interpretation of genetic variation is required for understanding genotype-phenotype associations, mechanisms of inherited disease, and drivers of cancer. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 20% of disease-associated missense SNVs are located in protein sites of post-translational modifications (PTMs), chemical modificatio...

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Literature Corpus work: bc428662-2fc4-5608-a769-fd6bc1e88ab6
DOI: 10.1101/178392

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