Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G607V
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SCN5A

NM_000335.5:p.G607V

Associated Papers

Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39482628 (PubMed )
Supplement: 12872_2024_4286_MOESM1_ESM.xlsx › Tabelle1

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39068400 (PubMed )
Supplement: 12872_2024_4065_MOESM2_ESM.xlsx › Tabelle1

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_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."