Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. (2023)
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/10.1038/s41431-023-01437-2
PubMed Identifier: 37558808
Publication URI: http://europepmc.org/abstract/MED/37558808
Type: Journal Article/Review
Volume: 31
Parent Publication: European journal of human genetics : EJHG
Issue: 10
ISSN: 1018-4813