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 :
2020 Mai 3
Pmid / DOI:
10.1002/humu.24027