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Article

Ion channel phosphorylopathy: a link between genomic variation and human disease.

ChemMedChem - 1 Oct 2012

Gentile Saverio

Abstract excerpt

Voltage-gated ion channels (VGIC) regulate many important physiological events, including muscle contraction, brain function, and secretion. Mutations that inhibit or up-regulate VGIC activities can dramatically interfere with the normal function of several organs, leading to unpredictable failure and therefore poor quality of life or even death. Many genomic variations that change amino acids in cytoplasmic...

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PMID: 22927196
DOI: 10.1002/cmdc.201200236

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