Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.C981*
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SCN5A

NM_000335.5:p.C981*

Associated Papers

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Lenarduzzi S et al.

Molecular Genetics & Genomic Medicine, 2023

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Wijeyeratne YD et al.

Circulation. Genomic and Precision Medicine, 2020

33164571 (PubMed )
Supplement: hcg-13-e002911-s001.pdf
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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."