Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A204Splc
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SCN5A

NM_000335.5:p.A204Splc

Associated Papers

Application of clinical exome sequencing in sperm donor screening in China.

Huang J et al.

Journal of Assisted Reproduction and Genetics, 2025

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.

Yuan M et al.

Frontiers in Cardiovascular Medicine, 2021

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Marcondes L et al.

Plos One, 2018

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

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.

Probst V et al.

Circulation. Cardiovascular Genetics, 2009

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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."