Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2022)

First Author: Park J
Attributed to:  Newcastle University Single Cell Functional Genomics Unit (NUSCU) funded by MRC

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