Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.R8*
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AGL

NM_000642.3:p.R8*

Associated Papers

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP et al.

Journal of Inherited Metabolic Disease, 2016

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

Decostre V et al.

Neuromuscular Disorders : Nmd, 2016

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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."