Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.A1945P
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SETX

NM_015046.7:p.A1945P

Associated Papers

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

Appel CD et al.

Molecular Cell, 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

Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.

Leonaitė B et al.

The Embo Journal, 2017

28408439 (PubMed )
Supplement: EMBJ-36-1590-s001.pdf

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL et al.

Human Molecular Genetics, 2014

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

Arning L et al.

Neurogenetics, 2013

(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.

Iltis I et al.

Brain Research, 2010

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

Airoldi G et al.

Neurogenetics, 2010

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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."