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Accessed January 20, 2023."},{"key":"ref118","doi-asserted-by":"publisher","first-page":"CS12","DOI":"10.12659\/msm.881320","volume":"17","author":"Dervisoglu","year":"2011","journal-title":"Med Sci Monit"},{"key":"ref119","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1007\/s00467-016-3415-4","volume":"31","author":"Haws","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"ref120","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1007\/s11695-014-1379-7","volume":"24","author":"Mujahid","year":"2014","journal-title":"Obes Surg"},{"key":"ref121","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1210\/js.2017-00071","volume":"1","author":"Boscolo","year":"2017","journal-title":"J Endocr Soc"},{"key":"ref122","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1002\/oby.23385","volume":"30","author":"Gantz","year":"2022","journal-title":"Obesity"},{"key":"ref123","doi-asserted-by":"publisher","first-page":"e0140705","DOI":"10.1371\/journal.pone.0140705","volume":"10","author":"Hamlington","year":"2015","journal-title":"PLoS One"},{"key":"ref124","doi-asserted-by":"publisher","first-page":"101600","DOI":"10.1016\/j.bonr.2022.101600","volume":"17","author":"Jeziorny","year":"2022","journal-title":"Bone Rep"},{"key":"ref125","doi-asserted-by":"publisher","first-page":"e22300","DOI":"10.1097\/MD.0000000000022300","volume":"99","author":"Yaman","year":"2020","journal-title":"Medicine"},{"key":"ref126","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1111\/j.1399-0004.2010.01475.x","volume":"79","author":"Genuis","year":"2011","journal-title":"Clin Genet"},{"key":"ref127","doi-asserted-by":"publisher","first-page":"447","DOI":"10.2217\/pme-2017-0019","volume":"14","author":"Kenny","year":"2017","journal-title":"Per Med"},{"key":"ref128","doi-asserted-by":"publisher","first-page":"6118","DOI":"10.1167\/iovs.13-11673","volume":"54","author":"Seo","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref129","doi-asserted-by":"publisher","first-page":"6276","DOI":"10.1073\/pnas.1019222108","volume":"108","author":"Simons","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref130","unstructured":"Food and Drug Administration. 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Available from: https:\/\/www.proteinatlas.org. Accessed January 20, 2023."},{"key":"ref145","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.1093\/hmg\/ddab354","volume":"31","author":"Zhou","year":"2022","journal-title":"Human Mol Genet"},{"key":"ref146","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1042\/EBC20180030","volume":"62","author":"Wingfield","year":"2018","journal-title":"Essays Biochem"},{"key":"ref147","doi-asserted-by":"publisher","first-page":"833086","DOI":"10.3389\/fcell.2022.833086","volume":"10","author":"Senatore","year":"2022","journal-title":"Front Cell Dev Biol"},{"key":"ref148","doi-asserted-by":"publisher","first-page":"D523","DOI":"10.1093\/nar\/gkac1052","volume":"51","author":"Bateman","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"ref149","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s13630-016-0040-6","volume":"5","author":"Johnson","year":"2016","journal-title":"Cilia"},{"key":"ref150","doi-asserted-by":"publisher","first-page":"e1001720","DOI":"10.1371\/journal.pbio.1001720","volume":"11","author":"Cui","year":"2013","journal-title":"PLoS Biol"},{"key":"ref151","doi-asserted-by":"publisher","first-page":"3479","DOI":"10.1016\/j.febslet.2015.07.031","volume":"589","author":"Novas","year":"2015","journal-title":"FEBS Lett"},{"key":"ref152","doi-asserted-by":"publisher","first-page":"287","DOI":"10.3389\/fcell.2019.00287","volume":"7","author":"Pruski","year":"2019","journal-title":"Front Cell Dev Biol"},{"key":"ref153","unstructured":"CFAP418 cilia and flagella associated protein 418 [Homo sapiens (human)] Gene ID: 157657; 2022. Available from: https:\/\/www.ncbi.nlm.nih.gov\/gene\/157657. Accessed January 20, 2023."},{"key":"ref154","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.devcel.2017.05.016","volume":"42","author":"Kanie","year":"2017","journal-title":"Dev Cell"},{"key":"ref155","doi-asserted-by":"publisher","first-page":"1845","DOI":"10.1021\/acschembio.9b00582","volume":"14","author":"Mannella","year":"2019","journal-title":"ACS Chem Biol"},{"key":"ref156","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1038\/s41431-019-0347-z","volume":"27","author":"Wormser","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"ref157","doi-asserted-by":"publisher","first-page":"1058895","DOI":"10.3389\/fcell.2022.1058895","volume":"10","author":"Lee","year":"2022","journal-title":"Front Cell Dev Biol"}],"container-title":["Therapeutics and Clinical Risk Management"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=87168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=87168","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T18:51:58Z","timestamp":1675191118000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":157,"URL":"https:\/\/doi.org\/10.2147\/tcrm.s338653","relation":{},"ISSN":["1178-203X"],"issn-type":[{"value":"1178-203X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}