Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V258A
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SCN5A

NM_000335.5:p.V258A

Associated Papers

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.

Chae H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."