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ID | DOID:0081331 |
Name | glycogen storage disease Ic |
Definition | A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. https://pubmed.ncbi.nlm.nih.gov/10598822/ |
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