Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M386T
Back to variants list

SETX

NM_015046.7:p.M386T

Associated Papers

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Chen S et al.

Frontiers in Molecular Neuroscience, 2022

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.

Hadjinicolaou A et al.

Acta Neuropathologica Communications, 2021

Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.

Lei L et al.

Journal of Neurology, 2021

[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

A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.

Ma L et al.

Brain and Behavior, 2018

Investigation of recessive ataxia loci in patients with young age of onset.

Zühlke C et al.

Neuropediatrics, 2007

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."