Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.G2insFs
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AGL

NM_000642.3:p.G2insFs

Associated Papers

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2010

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Aoyama Y et al.

Journal of Human Genetics, 2009

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y et al.

Journal of Human Genetics, 2006

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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."