Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Abstract Background Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene (MED12 c.3412C>T, p.Arg1138Trp). The functional consequence...

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Detalhes bibliográficos

Principais autores:	Nicole C. Shaw, Saraya Harrison, Kevin Chen, Catherine A. Forbes, Emma Kuzminski, Mitchell Hedges, Kathryn O. Farley, Michelle Ward, Lily Loughman, Cathryn Poulton, Gareth Baynam, Timo Lassmann, Vanessa S. Fear
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-09-01
coleção:	Molecular Medicine
Assuntos:	MED12 Rare disease Patient-derived iPSCs Human neural disease model Functional genomics Mediator complex
Acesso em linha:	https://doi.org/10.1186/s10020-025-01365-5
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