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NPJ Genomic Medicine|October 10, 2025
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variantMatan M Jean, Anan Yunis, Tzofit Elbaz-Biton, et al.European Journal of Human Genetics : EJHG|February 7, 2019
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndromeOhad Wormser, Libe Gradstein, Yuval Yogev, et al.Pageof 5