Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A2T
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SCN5A

NM_000335.5:p.A2T

Associated Papers

Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.

Martínez-Barrios E et al.

International Journal of Molecular Sciences, 2026

41596527 (PubMed )
Supplement: ijms-27-00880-s001.zip › ijms-4088130-supplementary.xlsx › Table_S1

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA 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, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

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 › S13

Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing.

Pablo Flórez J 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, 2018

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.

García-Castro M et al.

Revista Espanola De Cardiologia, 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."