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PubMed (cited) for id: 617119
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Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Clin Genet. 2021 Jul;100(1):93-99. doi: 10.1111/cge.13962. Epub 2021 Mar 27.
Clin Genet. 2021.
PMID: 33748949
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Kleinendorst L, Alsters SIM, Abawi O, Waisfisz Q, Boon EMJ, van den Akker ELT, van Haelst MM.
Kleinendorst L, et al.
Eur J Hum Genet. 2020 Jul;28(7):943-946. doi: 10.1038/s41431-020-0594-z. Epub 2020 Mar 6.
Eur J Hum Genet. 2020.
PMID: 32144365
Free PMC article.
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N.
Lindstrand A, et al.
Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.
Am J Hum Genet. 2016.
PMID: 27486776
Free PMC article.
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