Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.R864P
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AGL

NM_000642.3:p.R864P

Associated Papers

Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.

Guan H et al.

Nature Communications, 2025

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

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Wang J et al.

Bmc Pediatrics, 2022

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

Zhai L et al.

Nature Communications, 2016

27088557 (PubMed )
Supplement: ncomms11229-s1.pdf

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

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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."