Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E555*
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SCN5A

NM_000335.5:p.E555*

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.

Clatot J et al.

International Journal of Molecular Sciences, 2020

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E et al.

Plos One, 2019

Voltage-gated sodium channels assemble and gate as dimers.

Clatot J et al.

Nature Communications, 2017

Bringing home the bacon? The next step in cardiac sodium channelopathies.

Wilde AA et al.

The Journal of Clinical Investigation, 2015

Genetically engineered SCN5A mutant pig hearts exhibit conduction defects and arrhythmias.

Park DS et al.

The Journal of Clinical Investigation, 2015

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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."