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Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Source :
- Genetics in Medicine; October 2023, Vol. 25 Issue: 10
- Publication Year :
- 2023
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 10
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63750213
- Full Text :
- https://doi.org/10.1016/j.gim.2023.100961