Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.P191L
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CASQ2

NM_001232.4:p.P191L

Associated Papers

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

Askarinejad A et al.

Gene, 2024

Clinical and genetic investigation of catecholaminergic polymorphic ventricular tachycardia in a consanguineous Tunisian family.

Nouira S et al.

Acta Cardiologica, 2020

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.

Ng K et al.

Circulation, 2020

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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."