Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q380_T381Splc
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SCN5A

NM_000335.5:p.Q380_T381Splc

Associated Papers

Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.

Surget E et al.

Heart Rhythm O2, 2025

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Cheng L et al.

International Journal of Genomics, 2020

Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children.

Moreau A et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 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."