Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A630fs
Back to variants list

GNE

NM_005476.7:p.A630fs

Associated Papers

Nationwide patient registry for GNE myopathy in Japan.

Mori-Yoshimura M et al.

Orphanet Journal of Rare Diseases, 2014

25303967 (PubMed )
Supplement: 13023_2014_150_MOESM1_ESM.xlsx › Sheet1

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

Cho 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."