ARCN1

Publications

Izumi K et al. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am J Hum Genet. 2016;99(2):451-9.  PMID: 27476655.

Reunert J et al. Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I. Am J Med Genet A. 2019;179(7):1371-1375.  PMID: 31075182.