Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R605delFs
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POMGNT1

NM_017739.4:p.R605delFs

Associated Papers

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Hehr U et al.

Neurogenetics, 2007

Glycosylation in congenital muscular dystrophies.

Endo T et al.

Biological & Pharmaceutical Bulletin, 2003

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A et al.

Developmental Cell, 2001

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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."