Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E324fs
Back to variants list

SQSTM1

NM_003900.5:p.E324fs

Associated Papers

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.

Masuko S et al.

Molecular Genetics & Genomic Medicine, 2024

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."