Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H469R
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SETX

NM_015046.7:p.H469R

Associated Papers

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

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

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

Bassuk AG et al.

Neurogenetics, 2007

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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."