Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I331K
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SETX

NM_015046.7:p.I331K

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

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L et al.

Orphanet Journal of Rare Diseases, 2013

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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."