RecName: Full=Transmembrane protein 216

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Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. [Am J Hum Genet. 2010]
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O. Am J Hum Genet. 2010 Jan; 86(1):93-7. Epub 2009 Dec 31.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. [Nat Genet. 2010]
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, et al. Nat Genet. 2010 Jul; 42(7):619-25. Epub 2010 May 30.
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. [Science. 2012]
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, et al. Science. 2012 Feb 24; 335(6071):966-9. Epub 2012 Jan 26.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the Tmem216 gene.

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