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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. (2021)

First Author: Macken WL

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