Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.E369insFs
Back to variants list

GCNT2

NM_145649.5:p.E369insFs

Associated Papers

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Vajsar J et al.

Neuromuscular Disorders : Nmd, 2006

Glycosylation in congenital muscular dystrophies.

Endo T et al.

Biological & Pharmaceutical Bulletin, 2003

[Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects].

Endo T

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2003

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."