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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Protein Quality ControlAutoimmune DiseaseGeneticsPathologyJohanson-blizzard SyndromeGene ExpressionMedicineCell SignalingMental RetardationUbiquitin Ligase