Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Article
in En
| MEDLINE
| ID: mdl-37650884
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2023
Type:
Article
Affiliation country:
Germany