Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I1690_L1691insFs
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SETX

NM_015046.7:p.I1690_L1691insFs

Associated Papers

Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.

Singh P et al.

Journal of Molecular Biology, 2018

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

Airoldi G et al.

Neurogenetics, 2010

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

Dupré N et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Le Ber I et al.

Current Neurology and Neuroscience Reports, 2005

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Moreira MC et al.

Nature Genetics, 2004

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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."