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Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

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Year: 2010
Type: article
Source: The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2010.01.022
Authors: Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg
Institutions: Hebrew University of Jerusalem, Hadassah Medical Center, Howard Hughes Medical Institute, Cold Spring Harbor Laboratory, Albert Einstein College of Medicine, Children's Hospital at Montefiore
Language: English

Topic: Genetic and Kidney Cyst Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze
OpenAlex ID: W4241022227
FWCI: 0.359
Cites:
Cited by: 8
Related to: 10
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