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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseCause Joubert SyndromeMolecular GeneticsDisease Gene IdentificationAbnormal DevelopmentNephrocystin-4 InteractorMedicine