Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.K201delFs
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CASQ2

NM_001232.4:p.K201delFs

Associated Papers

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Li Q et al.

Molecular Genetics & Genomic Medicine, 2019

Catecholaminergic polymorphic ventricular tachycardia.

Leenhardt A et al.

Circulation. Arrhythmia and Electrophysiology, 2012

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

Roux-Buisson N et al.

Human Mutation, 2011

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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."