Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. (2021)
Attributed to:
Molecular and Bioinformatic support for the European Xenopus Resource Centre
funded by
BBSRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1186/s13073-021-00850-w
PubMed Identifier: 33632302
Publication URI: http://europepmc.org/abstract/MED/33632302
Type: Journal Article/Review
Volume: 13
Parent Publication: Genome medicine
Issue: 1
ISSN: 1756-994X