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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. (2020)

First Author: Thomas HB

Attributed to: Understanding the role of U5 snRNP gene mutation in pre-messenger RNA splicing and craniofacial development funded by BBSRC

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