Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
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Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.
Hum Mutat. 2018.
PMID: 29688594
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