Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q868*
Back to variants list

SETX

NM_015046.7:p.Q868*

Associated Papers

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

Senataxin and R-loops homeostasis: multifaced implications in carcinogenesis.

Gatti V et al.

Cell Death Discovery, 2023

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

Singh P et al.

Journal of Molecular Biology, 2018

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Hamza W et al.

Bmc Medical Genetics, 2015

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

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."