Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.Q4201K
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RYR2

NM_001035.3:p.Q4201K

Associated Papers

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Medeiros-Domingo A et al.

Journal of the American College of Cardiology, 2009

Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.

Wehrens XH et al.

Mayo Clinic Proceedings, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."