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Genet., 93, 357, 10.1016\u002Fj.ajhg.2013.06.009\nBeales, 2007, IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy, Nat. Genet., 39, 727, 10.1038\u002Fng2038\nHalbritter, 2013, Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans, Am. J. Hum. Genet., 93, 915, 10.1016\u002Fj.ajhg.2013.09.012\nFromer, 2012, Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth, Am. J. Hum. Genet., 91, 597, 10.1016\u002Fj.ajhg.2012.08.005\nKrumm, 2012, Copy number variation detection and genotyping from exome sequence data, Genome Res., 22, 1525, 10.1101\u002Fgr.138115.112\nKatsanis, 2013, Molecular genetic testing and the future of clinical genomics, Nat. Rev. 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