• 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
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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
Ke-Jian Lei, Leslie L. Shelly, Bao-Chuan Lin, James Buren Sidbury Jr., Yuan-Tsong Chen, Robert C. Nordlie, Janice Yang Chou;
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
Luciana Hannibal, Jule Theimer, Victoria Wingert, Katharina Klotz, Iris Bierschenk, Roland Nitschke, Ute Spiekerkoetter, Sarah Catharina Grunert;
Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease.
Front. Endocrinol. 11:579981.1-579981.14(2020)