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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2023)

First Author: Park J

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2023.100961

PubMed Identifier: 37650884

Publication URI: http://europepmc.org/abstract/MED/37650884

Type: Journal Article/Review

Volume: 25

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 10

ISSN: 1098-3600