Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts HH; Doherty D; van Beersum SE; Parisi MA; Letteboer SJ; Gorden NT; Peters TA; Märker T; Voesenek K; Kartono A; Ozyurek H; Farin FM; Kroes HY; Wolfrum U; Brunner HG; Cremers FP; Glass IA; Knoers NV; Roepman R; Nature Genetics, 2007, vol. 39, issue 7, p 882, ISSN 10614036. ISBN 10614036.

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