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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 (2023)

First Author: Smith T

Attributed to: Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41431-023-01437-2

PubMed Identifier: 37558808

Publication URI: http://europepmc.org/abstract/MED/37558808

Type: Journal Article/Review

Parent Publication: European Journal of Human Genetics

Issue: 10

ISSN: 1018-4813