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3
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; et al, ELIFE, v.4, 2015-05

4
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; et al, NATURE GENETICS, v.42, no.7, pp.619 - 625, 2010-07

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