Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G527R
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SCN5A

NM_000335.5:p.G527R

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

Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation.

Kim SS et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2026

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q et al.

Annals of Translational Medicine, 2020

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Yoon KA et al.

Genomics & Informatics, 2018

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

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.

Kapoor A et al.

Scientific Reports, 2016

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

Gourraud JB et al.

Frontiers in Cardiovascular Medicine, 2016

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

Le Scouarnec S et al.

Human Molecular Genetics, 2015

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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."