Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.P1008S
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SCN5A

NM_000335.5:p.P1008S

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Mutational analysis of SCN5A gene in long QT syndrome.

Qureshi SF et al.

Meta Gene, 2015

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Riuró H et al.

European Journal of Human Genetics : Ejhg, 2015

Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.

Park HS et al.

Genomics & Informatics, 2012

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

Hu D et al.

Pacing and Clinical Electrophysiology : Pace, 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."