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Biallelic variants in GPN2, an essential RNA polymerase assembly factor, result in pleiotropic Perrault syndrome phenotypes (2024)

First Author: Smith Thomas

Attributed to: Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Type: Conference/Paper/Proceeding/Abstract

Volume: 32

Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS

ISSN: 1018-4813