Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R376L
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SCN5A

NM_000335.5:p.R376L

Associated Papers

Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.

Silajdzija E et al.

Journal of the American Heart Association, 2025

41195766 (PubMed )
Supplement: JAH3-14-e043711-s001.pdf

Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Nav1.5.

Frederiksen TC et al.

Heartrhythm Case Reports, 2022

Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

Christiansen SL et al.

European Journal of Human Genetics : Ejhg, 2016

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