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Mutations identified in the SLC37A4 gene of GSD-Ib patients. The SLC37A4 gene is shown as a line diagram with the nine exons marked as boxes I to IX. Black boxes represent coding regions, and white boxes represent the 5′- and 3′-untranslated regions of the SLC37A4 transcript. The positions of all known mutations are listed from left to right as insertion/deletion, splicing, missense, and nonsense mutations.
