Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.D1872N
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RYR2

NM_001035.3:p.D1872N

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

Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.

Hsu GC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025

Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Lin Y et al.

Molecular Genetics & Genomic Medicine, 2021

Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.

Broendberg AK et al.

Heart (british Cardiac Society), 2017

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.

Larsen MK et al.

International Journal of Legal Medicine, 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."