Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.W1099*
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AGL

NM_000642.3:p.W1099*

Associated Papers

CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.

Daghar H et al.

Communications Biology, 2026

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Kor D et al.

Orphanet Journal of Rare Diseases, 2025

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."