Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.T2390I
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RYR2

NM_001035.3:p.T2390I

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 › patient_variants

RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.

Abdullah NM et al.

Translational Pediatrics, 2024

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

Ohno S et al.

Plos One, 2021

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 - Modified Schwartz Score.

Ozawa J et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

Miyata K et al.

Internal Medicine (tokyo, Japan), 2018

29434162 (PubMed )
Supplement: 1349-7235-57-1813-s001.pdf

Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation.

Watanabe T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

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

Ohno S 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."