Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.R5*
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GYS2

NM_021957.4:p.R5*

Associated Papers

Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report.

Fu H et al.

Medicine, 2024

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Iijima H et al.

Molecular Genetics and Metabolism Reports, 2021

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Brown LM et al.

Journal of Inherited Metabolic Disease, 2015

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

Bachrach BE et al.

The Journal of Pediatrics, 2002

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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."