Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.Y178H
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CASQ2

NM_001232.4:p.Y178H

Associated Papers

Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.

d'Apolito M et al.

International Journal of Molecular Sciences, 2025

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.

d'Apolito M et al.

Genes, 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."