Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

Overview of attention for article published in American Journal of Human Genetics, April 2024

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Check out the most recent UDN publication! Key takeaway: Dysregulation of glutamine synthetase (GS) due to #GLUL variants was found to be associated with severe developmental delays and neurological issues. https://t.co/0tLkCNHXmb

RT @MedgenW: Two new @AJHGNews papers contributed to by @GrangeDk and Rachel Slaugh https://t.co/r4r06X91xF and https://t.co/z1KzddWKrg. Co…

Two new @AJHGNews papers contributed to by @GrangeDk and Rachel Slaugh https://t.co/r4r06X91xF and https://t.co/z1KzddWKrg. Congrats! @WUSTLPeds @WashURareCare

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