Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.R896Q
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SCN9A

NM_002977.4:p.R896Q

Associated Papers

Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.

Zlotogora J

Clinical Genetics, 2021

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.

Marchi M et al.

Journal of the Peripheral Nervous System : Jpns, 2018

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

Mansouri M et al.

Pediatric Neurology, 2014

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ et al.

Human Mutation, 2010

Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.

Sun J et al.

Molecular Pain, 0

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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."