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Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b

G6pt1 GeneMendelian DisorderGenetic DisorderMedicineGeneticsInherited Metabolic DiseaseMolecular BiologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationGenomicsMolecular DiagnosticsGlycogen Storage DiseaseLysosomal Storage DiseaseNovel Missense Mutation