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Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects.
Hum Mol Genet. 2023 Sep 16;32(19):2887-2900. doi: 10.1093/hmg/ddad112.
Hum Mol Genet. 2023.
PMID: 37427975
Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.
Ishida Y, Tasaki K, Katoh Y, Nakayama K.
Ishida Y, et al. Among authors: tasaki k.
Mol Biol Cell. 2022 Aug 1;33(9):ar83. doi: 10.1091/mbc.E22-05-0188. Epub 2022 Jun 15.
Mol Biol Cell. 2022.
PMID: 35704471
Free PMC article.
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