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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. Aldahmesh MA, et al. Among authors: li y. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488770 Free PMC article.
Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.
Zhao L, Yuan S, Cao Y, Kallakuri S, Li Y, Kishimoto N, DiBella L, Sun Z. Zhao L, et al. Among authors: li y. Proc Natl Acad Sci U S A. 2013 Jul 30;110(31):12697-702. doi: 10.1073/pnas.1300968110. Epub 2013 Jul 15. Proc Natl Acad Sci U S A. 2013. PMID: 23858445 Free PMC article.
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