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

Thomas, Huw B. ; Wood, Katherine A. ; Buczek, Weronika A. ; Gordon, Christopher T. ; Pingault, Véronique ; Attié‐Bitach, Tania ; Hentges, Kathryn E. ; Varghese, Vinod C. ; Amiel, Jeanne ; Newman, William G. ; O'Keefe, Raymond T.

Human mutation, 2020-08, Vol.41 (8), p.1372-1382 [Periódico revisado por pares]

United States: Hindawi Limited

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