Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M4002I
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RYR2

NM_001035.3:p.M4002I

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

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

Shimamoto K et al.

Heart (british Cardiac Society), 2022

35135837 (PubMed )
Supplement: heartjnl-2021-320220supp001.pdf

Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.

Mazzanti A et al.

Jama Cardiology, 2022

Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Ohno S et al.

Plos One, 2021

The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

Leinonen JT et al.

International Journal of Cardiology, 2018

Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Ohno S et al.

Plos One, 2015

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

Kawamura M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2013

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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."