Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M3999V
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RYR2

NM_001035.3:p.M3999V

Associated Papers

Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.

Cho MJ et al.

The American Journal of Cardiology, 2025

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

Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.

Desai S et al.

Current Opinion in Cardiology, 2025

Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience.

Lee J et al.

Korean Circulation Journal, 2024

Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report.

Konomatsu K et al.

Seizure, 2024

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability.

Guo W et al.

The Journal of Biological Chemistry, 2020

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Seo SH et al.

Annals of Laboratory Medicine, 2018

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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."