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Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169.
Hum Mol Genet. 2019.
PMID: 31304552
Free PMC article.
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. Among authors: buczek wa.
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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Proteomic Approaches to Study Cysteine Oxidation: Applications in Neurodegenerative Diseases.
Pham TK, Buczek WA, Mead RJ, Shaw PJ, Collins MO.
Pham TK, et al. Among authors: buczek wa.
Front Mol Neurosci. 2021 Jun 9;14:678837. doi: 10.3389/fnmol.2021.678837. eCollection 2021.
Front Mol Neurosci. 2021.
PMID: 34177463
Free PMC article.
Review.
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