Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A4204V
Back to variants list

RYR2

NM_001035.3:p.A4204V

Associated Papers

Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

Fowler ED et al.

Biomolecules, 2022

Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.

Li Y et al.

Circulation. Arrhythmia and Electrophysiology, 2021

Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation.

Kron J et al.

International Journal of Cardiology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."