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Lee, Ji Eun; Silhavy, Jennifer L; Zaki, Maha S; Schroth, Jana; Bielas, Stephanie L; Marsh, Sarah E; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M; Merriman, Barry; AttiƩ-Bitach, Tania; Logan, Clare V; Glass, Ian A; Cluckey, Andrew; Louie, Carrie M; Lee, Jeong Ho; Raynes, Hilary R; Rapin, Isabelle; Castroviejo, Ignacio P; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F; Hildebrandt, Friedhelm; Johnson, Colin A; Doherty, Daniel A; Valente, Enza Maria; Gleeson, Joseph G (2012). CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44(2):193-199.

Zhou, Weibin; Otto, Edgar A; Cluckey, Andrew; Airik, Rannar; Hurd, Toby W; Chaki, Moumita; Diaz, Katrina; Lach, Francis P; Bennett, Geoffrey R; Gee, Heon Yung; Ghosh, Amiya K; Natarajan, Sivakumar; Thongthip, Supawat; Veturi, Uma; Allen, Susan J; Janssen, Sabine; Ramaswami, Gokul; Dixon, Joanne; Burkhalter, Felix; Spoendlin, Martin; Moch, Holger; Mihatsch, Michael J; Verine, Jerome; Reade, Richard; Soliman, Hany; Godin, Michel; Kiss, Denes; Monga, Guido; Mazzucco, Gianna; Amann, Kerstin; Artunc, Ferruh; Newland, Ronald C; Wiech, Thorsten; Zschiedrich, Stefan; Huber, Tobias B; Friedl, Andreas; Slaats, Gisela G; Joles, Jaap A; Goldschmeding, Roel; Washburn, Joseph; Giles, Rachel H; Levy, Shawn; Smogorzewska, Agata; Hildebrandt, Friedhelm (2012). FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nature Genetics, 44(8):910-915.

This list was generated on Wed May 22 05:51:21 2019 CEST.