Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2022)
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.07.006
PubMed Identifier: 35986737
Publication URI: http://europepmc.org/abstract/MED/35986737
Type: Journal Article/Review
Volume: 24
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 10
ISSN: 1098-3600