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Genet."},{"key":"10.1016\/j.ajhg.2011.06.003_bib75","doi-asserted-by":"crossref","first-page":"10602","DOI":"10.1073\/pnas.1000219107","article-title":"Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome","volume":"107","author":"Zaghloul","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.06.003_bib76","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. 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