Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.E44Q
Back to variants list

SCN9A

NM_001365536.1:p.E44Q

Associated Papers

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Noguchi A et al.

International Journal of Molecular Sciences, 2024

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Boßelmann CM et al.

Plos Computational Biology, 2023

36877742 (PubMed )
Supplement: pcbi.1010959.s004.pdf

Pathological changes of the sural nerve in patients with familial episodic pain syndrome.

Zheng Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Familial Episodic Pain Syndromes.

Shen Y et al.

Journal of Pain Research, 2022

E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current.

Takahashi K et al.

Heliyon, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."