Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R513C
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SCN5A

NM_000335.5:p.R513C

Associated Papers

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

Sono R et al.

Cells, 2023

Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene.

Chen J et al.

Stem Cell Research, 2021

Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.

Priganc M et al.

Journal of Clinical Laboratory Analysis, 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."