Article
wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.
Human mutation - 1 Jan 2016
Vazquez Miguel, Pons Tirso, Brunak Søren, Valencia Alfonso, Izarzugaza Jose M G
Abstract excerpt
Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered across different sources, which makes the integrative analysis complex and laborious. wKinMut-2...
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