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Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort. (2025)

First Author: Schoonen M

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/s41431-025-01795-z

PubMed Identifier: 39966651

Publication URI: http://europepmc.org/abstract/MED/39966651

Type: Journal Article/Review

Parent Publication: European journal of human genetics : EJHG

ISSN: 1018-4813