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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. (2023)

First Author: Paiva ARB

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/10.1136/jnnp-2022-330135

PubMed Identifier: 36737246

Publication URI: http://europepmc.org/abstract/MED/36737246

Type: Journal Article/Review

Volume: 94

Parent Publication: Journal of neurology, neurosurgery, and psychiatry

Issue: 5

ISSN: 0022-3050