Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E2182_A2183Splc
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SETX

NM_015046.7:p.E2182_A2183Splc

Associated Papers

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

Airoldi G et al.

Neurogenetics, 2010

Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.

Fogel BL et al.

Cerebellum (london, England), 2009

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M et al.

Brain : a Journal of Neurology, 2009

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

Tazir M et al.

Journal of the Neurological Sciences, 2009

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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."