Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.G202_V203Splc
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CASQ2

NM_001232.4:p.G202_V203Splc

Associated Papers

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.

Rayani K et al.

European Journal of Human Genetics : Ejhg, 2023

Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia.

Franciosi S et al.

Journal of Cardiovascular Electrophysiology, 2019

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Roston TM et al.

Plos One, 2018

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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."