Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.W1451C
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AGL

NM_000642.3:p.W1451C

Associated Papers

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

Al-Hussaini A et al.

Plos One, 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

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Perveen S et al.

American Journal of Medical Genetics. Part A, 2020

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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."