Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. (2021)
Attributed to:
MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2021.11.003
PubMed Identifier: 34800363
Publication URI: http://europepmc.org/abstract/MED/34800363
Type: Journal Article/Review
Volume: 108
Parent Publication: American journal of human genetics
Issue: 12
ISSN: 0002-9297