EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. (2020)
Attributed to:
Investigating the emerging role of spliceosome mutations in craniofacial development disorders
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1002/humu.24027
PubMed Identifier: 32333448
Publication URI: http://europepmc.org/abstract/MED/32333448
Type: Journal Article/Review
Volume: 41
Parent Publication: Human mutation
Issue: 8
ISSN: 1059-7794