Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G351D
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SCN5A

NM_000335.5:p.G351D

Associated Papers

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.

Frosio A et al.

International Journal of Molecular Sciences, 2023

Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome.

Tambi R et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2021

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.

Yagihara N et al.

Journal of the American Heart Association, 2016

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A et al.

Plos One, 2013

23308164 (PubMed )
Supplement: pone.0053220.s002.doc

Association of the genetic variants of luteinizing hormone, luteinizing hormone receptor and polycystic ovary syndrome.

Liu N et al.

Reproductive Biology and Endocrinology : Rb&e, 2012

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

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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."