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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

American Journal of Human Genetics
  86 (1): 93-97; Jan 8 2010   PMCID: PMC2801745
[DOI] [Full Text] [PDF]

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