Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q988fs
Back to variants list

SETX

NM_015046.7:p.Q988fs

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

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

Moreira MC et al.

Nature Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."