Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling
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DOI: 10.14814/phy2.15265
Abstract: Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, characterized by increased sensitivity… read more here.
Keywords: variant ryr2; calcium handling; calcium; nonsense variant ... See more keywords