Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E553*
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SCN5A

NM_000335.5:p.E553*

Associated Papers

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

[Brugada Syndrome: Possibilities of the Use of Noninvasive Electrocardiographic Mapping].

Chaykovskaya MK et al.

Kardiologiia, 2015

[Brugada Syndrome: Possibilities of the Use of Noninvasive Electrocardiographic Mapping. A Case Report].

Chaykovskaya MK et al.

Kardiologiia, 2015

Cardiac channelopathies: genetic and molecular mechanisms.

Abriel H et al.

Gene, 2013

[Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene].

Zakliaz'minskaia EV et al.

Khirurgiia, 2013

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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."