EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attie-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT
Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3. PubMed Article

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