Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.D197H
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SCN5A

NM_000335.5:p.D197H

Associated Papers

SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.

Heymans ABM et al.

Current Cardiology Reports, 2025

A Novel SCN5A Mutation (c.589G>A) Is Associated With Intermittent Atrial Standstill and Conduction System Disease.

Kohli U et al.

Jacc. Case Reports, 2025

Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.

Peters S et al.

Circulation. Genomic and Precision Medicine, 2022

A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?

Marinelli A et al.

Heartrhythm Case Reports, 2021

Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.

Kean AC et al.

Cardiology in the Young, 2019

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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."