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Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities

The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. Yet, the effects of most pathogenic variants on the hu...

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Detalles Bibliográficos
Autores principales: Rai, Bhavana, Naylor, Paige E., Siqueiros-Sanchez, Monica, Wintermark, Max, Raman, Mira M., Jo, Booil, Reiss, Allan L., Green, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10322993/
https://www.ncbi.nlm.nih.gov/pubmed/37407569
http://dx.doi.org/10.1038/s41398-023-02504-4