Article

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

2023-03-22

Abstract excerpt

<h4>ABSTRACT</h4> To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and severe congenital brain arteriovenous malformation, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP ( RASA1 ) harbored a genome-wide significant burden of loss-of-function de novo...

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Literature Corpus work: 284567be-7b5e-5f10-9cc9-ddb8ce85bd59
DOI: 10.1101/2023.03.18.532837

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