Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.K76K
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G6PC1

NM_000151.4:p.K76K

Associated Papers

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

Trioche P et al.

Journal of Inherited Metabolic Disease, 2004

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP et al.

European Journal of Pediatrics, 2000

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

Galli L et al.

Febs Letters, 1999

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M et al.

American Journal of Human Genetics, 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."