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Figure 6 | Orphanet Journal of Rare Diseases

Figure 6

From: A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations

Figure 6

Predicted topology of G6PC3 with missense mutations. Residues substituted by missense mutation are highlighted by red circles and the laboratory generated substitutions by blue circles. The S139 residue, predicted in previous publications to be substituted by c.416G > T mutation is highlighted by purple circle. Our analysis suggests that the c.416G > T might be a splice-site mutation (see main text for discussion).

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