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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype. (2025)

First Author: Smith TB

Attributed to: Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2024.11.007

PubMed Identifier: 39701103

Publication URI: http://europepmc.org/abstract/MED/39701103

Type: Journal Article/Review

Volume: 112

Parent Publication: American journal of human genetics

Issue: 1

ISSN: 0002-9297