Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.M5R
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G6PC1

NM_000151.4:p.M5R

Associated Papers

The induced-fit and catalytic mechanisms of human G6PC1.

Chen Q et al.

Cell Discovery, 2025

Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.

Xia Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY et al.

Human Mutation, 2008

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Carvès C et al.

Joint Bone Spine, 2003

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D et al.

European Journal of Pediatrics, 2002

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ et al.

The Journal of Biological Chemistry, 2002

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Trioche P et al.

Human Mutation, 2000

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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."