• Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Gly222Arg (c.666G>C) (G743C); Zygosity=Heterozygous (PubMed=7814621).
  
• Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Gln347Ter (c.1039C>T) (C1118T); ClinVar=VCV000012000; Zygosity=Heterozygous (PubMed=7814621).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7814621; DOI=10.1172/JCI117645; PMCID=PMC295414
Lei K.-J., Shelly L.L., Lin B.-C., Sidbury J.B. Jr., Chen Y.-T., Nordlie R.C., Chou J.Y.
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
J. Clin. Invest. 95:234-240(1995)

PubMed=33329388; DOI=10.3389/fendo.2020.579981; PMCID=PMC7719825
Hannibal L., Theimer J., Wingert V., Klotz K., Bierschenk I., Nitschke R., Spiekerkoetter U., Grunert S.C.
Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease.
Front. Endocrinol. 11:579981.1-579981.14(2020)