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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

GlycoproteomicsMendelian DisorderGenetic DisorderNatural SciencesGeneticsInherited Metabolic DiseaseGlycobiologyGlycosylation Disorder CharacterizedMolecular BiologyDegenerative DiseaseDisease Gene IdentificationMedicineGmppa Cause