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Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesisPathologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationJohanson Blizzard SyndromeMental RetardationMedicineMild PhenotypeInborn Error Of Immunity