Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D269fs
Back to variants list

GNE

NM_001128227.3:p.D269fs

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

Zhu W et al.

Journal of Human Genetics, 2017

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Chaouch A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2014

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."