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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Sophie Saunier, Lekbir Baala et al.|Nature Genetics|2007Cited by 495
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisHeike Olbrich, Heymut Omran, Manfred Fliegauf et al.|Nature Genetics|2003Cited by 368
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in EvolutionEdgar A. Otto, Friedhelm Hildebrandt, Julia Hoefele et al.|The American Journal of Human Genetics|2002Cited by 210