Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L732V
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SCN5A

NM_000335.5:p.L732V

Associated Papers

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

Broendberg AK et al.

European Journal of Human Genetics : Ejhg, 2018

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

van der Linde IHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2017

28864942 (PubMed )
Supplement: 12471_2017_1037_MOESM2_ESM.docx

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

Campuzano O et al.

Forensic Science International, 2014

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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."