Metadata | |
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ID | DOID:0081330 |
Name | glycogen storage disease Ib |
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. https://pubmed.ncbi.nlm.nih.gov/31536830/ |
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