Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.W1099R
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AGL

NM_000642.3:p.W1099R

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

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Nazari F et al.

Journal of Clinical Neuromuscular Disease, 2018

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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."