Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A1050T
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SCN5A

NM_000335.5:p.A1050T

Associated Papers

Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.

Osouf J et al.

Forensic Science International. Genetics, 2026

Phenotypes in Brugada syndrome with different genotypes triggered by fever or inflammation using gene-edited iPSCs.

Li Y et al.

Stem Cell Research & Therapy, 2025

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Noncoding RNAs and Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes in Cardiac Arrhythmic Brugada Syndrome.

Theisen B et al.

Cells, 2023

Novel insights in the pathomechanism of Brugada syndrome and fever-related type 1 ECG changes in a preclinical study using human-induced pluripotent stem cell-derived cardiomyocytes.

Li Y et al.

Clinical and Translational Medicine, 2023

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 › S3
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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."