Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.Q69E
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CASQ2

NM_001232.4:p.Q69E

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

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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."