https://www.selleckchem.com/pr....oducts/wnt-agonist-1
Mutations in the cardiac ryanodine receptor 2 gene (RYR2) are noted in approximately 55% of the patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). However, a high background rate of rare amino acid-altering variants in RYR2 [≈3% (whites) to 6% (nonwhites)] in combination with delayed onset and variable expressivity of the CPVT phenotype make attributing causality to rare RYR2 variants difficult. The proposed set of guidelines for characterization of variants include, among many different criteria, function
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