Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I239V
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SCN5A

NM_000335.5:p.I239V

Associated Papers

Mutation-specific roles of sustained sodium current (INa) in guiding precision medicine for long QT syndrome type 3.

Auvichayapat V et al.

Pnas Nexus, 2025

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

Cloninger's temperament traits and inherited long QT syndrome.

Määttänen I et al.

Journal of Psychosomatic Research, 2011

Abnormal repolarization dynamics revealed in exercise test in long QT syndrome mutation carriers with normal resting QT interval.

Hekkala AM et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010

A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.

Hintsa T et al.

Heart (british Cardiac Society), 2010

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 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."