Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.R220T
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SCN9A

NM_001365536.1:p.R220T

Associated Papers

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

Deuis JR et al.

Human Molecular Genetics, 2024

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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."