Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.H176R
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G6PC1

NM_000151.4:p.H176R

Associated Papers

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.

Perry A et al.

Jimd Reports, 2020

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

Chou JY et al.

Human Mutation, 2008

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J et al.

Trends in Endocrinology and Metabolism: Tem, 1999

Transmembrane topology of glucose-6-phosphatase.

Pan CJ et al.

The Journal of Biological Chemistry, 1998

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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."