Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.E4187K
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RYR2

NM_001035.3:p.E4187K

Associated Papers

RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.

Chang A et al.

Circulation. Arrhythmia and Electrophysiology, 2025

40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patients_per_variant

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.

Shimamoto K et al.

Heart (british Cardiac Society), 2022

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment.

Kawata H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2016

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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."