Article

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

2023-02-21

Abstract excerpt

<title>Abstract</title><p>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 human brain are unknown. We examined: 1. How Ras-MAPK activating variants of<italic>PTPN11</i...

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Literature Corpus work: 22eda218-f4f7-503f-a5ce-3785da4c3bb2
DOI: 10.21203/rs.3.rs-2580911/v1

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