Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.R838Q
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SCN11A

NM_001349253.2:p.R838Q

Associated Papers

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

Familial Episodic Pain Syndromes.

Shen Y et al.

Journal of Pain Research, 2022

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

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Sambuughin N et al.

Case Reports in Genetics, 2018

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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."