Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.A1120P
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AGL

NM_000642.3:p.A1120P

Associated Papers

Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.

Guan H et al.

Nature Communications, 2025

40593796 (PubMed )
Supplement: 41467_2025_61077_MOESM2_ESM.pdf

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

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

Lucchiari S et al.

Human Mutation, 2006

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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."