Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.E4146D
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RYR2

NM_001035.3:p.E4146D

Associated Papers

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.

Lv T et al.

Journal of Cardiovascular Electrophysiology, 2025

How does flecainide impact RyR2 channel function?

Salvage SC et al.

The Journal of General Physiology, 2022

Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

Fowler ED et al.

Biomolecules, 2022

Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.

Hirose S et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2022

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Shigemizu D et al.

Plos One, 2015

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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."