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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. (2024)

First Author: Chelban V

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/10.1038/s41467-024-46354-0

PubMed Identifier: 38480682

Publication URI: http://europepmc.org/abstract/MED/38480682

Type: Journal Article/Review

Volume: 15

Parent Publication: Nature communications

Issue: 1

ISSN: 2041-1723