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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. (2022)

First Author: Shintaku J

Attributed to: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1172/jci145660

PubMed Identifier: 35617047

Publication URI: http://europepmc.org/abstract/MED/35617047

Type: Journal Article/Review

Volume: 132

Parent Publication: The Journal of clinical investigation

Issue: 13

ISSN: 0021-9738