Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.Q4164E
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RYR2

NM_001035.3:p.Q4164E

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

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Neubauer J et al.

International Journal of Legal Medicine, 2021

Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.

Neubauer J et al.

International Journal of Legal Medicine, 2018

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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."