Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R2136C
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SETX

NM_015046.7:p.R2136C

Associated Papers

Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review.

Bombaci A et al.

Journal of Neurology, 2023

Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.

Appel CD et al.

Molecular Cell, 2023

[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].

Kitao R et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF et al.

Translational Neurodegeneration, 2016

Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation.

Saiga T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

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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."