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

Thomas H,Wood K,Buczek W,Gordon C,Pingault V,Attié‐Bitach T,Hentges K,Varghese V,Amiel J,Newman W,O'Keefe R

Source :

Wiley

2020 May 3

Pmid / DOI:

10.1002/humu.24027