Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.R428K
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AGL

NM_000642.3:p.R428K

Associated Papers

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.

Gardin A et al.

The Journal of Clinical Investigation, 2024

Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.

Zhai L et al.

Nature Communications, 2016

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Ko JS et al.

Journal of Human Genetics, 2014

Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

Lucchiari S et al.

Human Mutation, 2003

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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."