Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.Q67*
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CASQ2

NM_001232.4:p.Q67*

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

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Li Q et al.

Molecular Genetics & Genomic Medicine, 2019

Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.

Josephs K et al.

Molecular Genetics & Genomic Medicine, 2017

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Delio M et al.

Plos One, 2015

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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."