Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A4954G
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RYR2

NM_001035.3:p.A4954G

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

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Case Report: The unrelenting journey-successful resolution of catecholaminergic polymorphic ventricular tachycardia (CPVT) through right cardiac sympathetic denervation in a teenager after left cardiac sympathetic denervation.

Leung HT et al.

Frontiers in Cardiovascular Medicine, 2024

Clinical Characteristics, Genetic Basis and Healthcare Resource Utilisation and Costs in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia: A Retrospective Cohort Study.

Chung CT et al.

Reviews in Cardiovascular Medicine, 2022

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

Leung J et al.

Life (basel, Switzerland), 2022

Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children.

Yu TC et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2016

Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Siu A et al.

Annals of Pediatric Cardiology, 0

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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."