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10.1161/ATVBAHA.121.316651

R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber syndrome brain CM.

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

10.1097/YCO.0000000000000466

2 Deletion Syndrome Brain and Behavior Consortium have suggested that chromosomal microdeletions are significantly more likely to involve protein-coding genes and several rare copy number variants are associated with the presence of psychosis in deleted individuals.

Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis

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Syndrome Brain - R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber syndrome brain CM. [1] 2 Deletion Syndrome Brain and Behavior Consortium have suggested that chromosomal microdeletions are significantly more likely to involve protein-coding genes and several rare copy number variants are associated with the presence of psychosis in deleted individuals. [2]