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

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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:
Article
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
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