Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.S1765C
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RYR2

NM_001035.3:p.S1765C

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

Apoptosis, a useful marker in the management of hot-phase cardiomyopathy?

Bassetto G et al.

European Journal of Heart Failure, 2024

The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain.

Robles-Mezcua A et al.

Genes, 2023

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

Begay RL et al.

Jacc. Basic to Translational Science, 2016

28008423 (PubMed )
Supplement: mmc1.pdf

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Jiménez-Jáimez J et al.

The American Journal of Cardiology, 2015

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