Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R367G
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SCN5A

NM_000335.5:p.R367G

Associated Papers

Comparison of three variant callers for human whole genome sequencing.

Supernat A et al.

Scientific Reports, 2018

30552369 (PubMed )
Supplement: 41598_2018_36177_MOESM1_ESM.pdf

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

Experimental Biology and Medicine (maywood, N.j.), 2018

Whole‑exome sequencing identifies a novel mutation (R367G) in SCN5A to be associated with familial cardiac conduction disease.

Yu R et al.

Molecular Medicine Reports, 2017

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