Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A1855D
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RYR2

NM_001035.3:p.A1855D

Associated Papers

Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.

Luo S et al.

Asian Heart Journal, 2025

Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.

Zhou Y et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

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

Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A.

Zhang Y et al.

Stem Cell Research, 2019

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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."