Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A4091T
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RYR2

NM_001035.3:p.A4091T

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

[Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene].

Sun Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Sleiman Y et al.

Cell Death & Disease, 2021

Structural Abnormalities on Cardiac Magnetic Resonance Imaging in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.

Gerber DA et al.

Jacc. Clinical Electrophysiology, 2020

Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia.

Franciosi S et al.

Journal of Cardiovascular Electrophysiology, 2019

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Kapplinger JD et al.

Circulation. Genomic and Precision Medicine, 2018

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf

Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia.

Jacquemart C et al.

Journal of Electrocardiology, 0

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