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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. (2023)

First Author: Maroofian R

Attributed to: Leveraging the power of genomics and transcriptomics to revolutionise the diagnosis and understanding of neurological disorders funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awad257

PubMed Identifier: 37517035

Publication URI: http://europepmc.org/abstract/MED/37517035

Type: Journal Article/Review

Volume: 146

Parent Publication: Brain : a journal of neurology

Issue: 12

ISSN: 0006-8950