Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.R830*
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SCN9A

NM_002977.4:p.R830*

Associated Papers

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Mansouri M et al.

Pediatric Neurology, 2014

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

Goldberg YP et al.

Clinical Genetics, 2007

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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."