Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S571I
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SCN5A

NM_000335.5:p.S571I

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

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

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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."