Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R1294C
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SETX

NM_015046.7:p.R1294C

Associated Papers

Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.

Giannini M et al.

Biochimie, 2024

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

A new SETX mutation producing AOA2 in two siblings.

Datta N et al.

The International Journal of Neuroscience, 2013

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L et al.

Neurogenetics, 2013

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Airoldi G et al.

Neurogenetics, 2010

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

Asaka T et al.

Neurology, 2006

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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."