Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R680C
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SCN5A

NM_000335.5:p.R680C

Associated Papers

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

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E et al.

Plos One, 2019

30615648 (PubMed )
Supplement: pone.0210017.s002.xlsx › Sheet1
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