Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
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Epting D, et al. Among authors: frikstad km.
Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1.
Hum Mutat. 2020.
PMID: 33131181
Free PMC article.