Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleEFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.AuthorsThomas, 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.PublicationHuman Mutation, 2020, Vol 41, Issue 8, p1372ISSN1059-7794Publication typeArticleDOI10.1002/humu.24027