Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
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Embargoed until: 5555-01-01
Reason: Version not permitted.
Volume
24
Pagination
2079 - 2090
DOI
10.1016/j.gim.2022.07.006
Journal
GENETICS IN MEDICINE
Issue
ISSN
1098-3600