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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5.
Clin Genet. 2022.
PMID: 34713892
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attié-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT.
Thomas HB, et al.
Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3.
Hum Mutat. 2020.
PMID: 32333448
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Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT.
Wood KA, et al.
Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169.
Hum Mol Genet. 2019.
PMID: 31304552
Free PMC article.
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