Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.M932L
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SCN9A

NM_002977.4:p.M932L

Associated Papers

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.

Bui DT et al.

Scientific Reports, 2024

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.

Blesneac I et al.

Pain, 2018

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D et al.

Bmc Systems Biology, 2017

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.

Imai N et al.

The Journal of Headache and Pain, 2015

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC et al.

Epilepsia, 2013

Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

Faber CG et al.

Annals of Neurology, 2012

Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.

Yuan R et al.

Pain Medicine (malden, Mass.), 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."