Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A2213S
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RYR2

NM_001035.3:p.A2213S

Associated Papers

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.

Lv T et al.

Journal of Cardiovascular Electrophysiology, 2025

Importance of genetic testing in unexplained cardiac arrest.

Grondin S et al.

European Heart Journal, 2022

35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Sleiman Y et al.

Cell Death & Disease, 2021

Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.

Roston TM et al.

Clinical Medicine Insights. Cardiology, 2017

28469493 (PubMed )
Supplement: f_SupplementaryMaterial_698134_8633.pdf

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

Roux-Buisson N et al.

Heart Rhythm, 2014

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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."