Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.A204V
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G6PC1

NM_000151.4:p.A204V

Associated Papers

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

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J et al.

Trends in Endocrinology and Metabolism: Tem, 1999

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Lei KJ et al.

American Journal of Human Genetics, 1995

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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."