Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.F177C
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G6PC1

NM_000151.4:p.F177C

Associated Papers

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

Chou JY et al.

Human Mutation, 2008

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

Matern D et al.

European 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."