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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...
Autores principales: | Rai, Bhavana, Naylor, Paige, Sanchez, Monica Siqueiros, Wintermark, Max, Raman, Mira, Jo, Booil, Reiss, Allan, Green, Tamar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Journal Experts
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980214/ https://www.ncbi.nlm.nih.gov/pubmed/36865206 http://dx.doi.org/10.21203/rs.3.rs-2580911/v1 |
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