Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.G349S
Back to variants list

ATXN1

NM_001128164.2:p.G349S

Associated Papers

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.

Bogdanova-Mihaylova P et al.

Journal of Neurology, 2021

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Krüger S et al.

Frontiers in Molecular Neuroscience, 2016

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."