Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.K301Splc
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SCN9A

NM_001365536.1:p.K301Splc

Associated Papers

Novel SCN9A variant associated with congenital insensitivity to pain.

Yammine T et al.

Molecular Biology Reports, 2023

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Cintra VP et al.

Journal of the Neurological Sciences, 2021

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery EC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

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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."