Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.A150Splc
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SCN1B

NM_001037.5:p.A150Splc

Associated Papers

Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.

Janicki PK et al.

Cureus, 2019

Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

El-Battrawy I et al.

Frontiers in Cell and Developmental Biology, 2019

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Peeters U et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Ricci MT et al.

Scientific Reports, 2014

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.

Riuró H et al.

Heart Rhythm, 2014

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.

Refsgaard L et al.

Applied & Translational Genomics, 2012

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.

Patino GA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

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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."