Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R1195H
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SCN5A

NM_001099404.2:p.R1195H

Associated Papers

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Villarreal-Molina T et al.

Genes, 2021

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

Yamagata K et al.

Circulation, 2017

Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?

Sacilotto L et al.

Arquivos Brasileiros De Cardiologia, 2017

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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."