Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.G264E
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GBE1

NM_000158.4:p.G264E

Associated Papers

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene.

Choi SY et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2018

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.

Ban HR et al.

Gut and Liver, 2009

Hyperactive glycogen synthase mutants of Saccharomyces cerevisiae suppress the glc7-1 protein phosphatase mutant.

Anderson C et al.

Journal of Bacteriology, 2001

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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."