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Article

MED23 pathogenic variant: genomic-phenotypic analysis.

Journal of medicine and life - 1 May 2024

Bamaga Ahmed, Muthaffar Osama, Alyazidi Anas, Bahowarth Sarah, Shawli Mohammed, Alotibi Fahad, Alsehemi Matar, Almohammal Mohammad, Alawwadh Adel, Alghamdi Njood

Abstract excerpt

The mediator complex subunit 23 (MED23) gene encodes a protein that acts as a tail module mediator complex, a multi-subunit co-activator involved in several cellular activities. MED23 has been shown to have substantial roles in myogenesis and other molecular mechanisms. The functions of MED23 in the neurological system remain unclear and the clinical phenotype is not thoroughly described. Whole exome sequencing...

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Identifiers

PMID: 39144687
DOI: 10.25122/jml-2024-0065
PMCID: PMC11320618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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