Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.V258_F259delFs
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SCN9A

NM_001365536.1:p.V258_F259delFs

Associated Papers

Novel SCN9A variant associated with congenital insensitivity to pain.

Yammine T et al.

Molecular Biology Reports, 2023

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 sodium channel Nav1.7 cause anosmia.

Weiss J et al.

Nature, 2011

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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."