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Clustered De Novo Start-Loss Variants in GLUL Result in a Developmental and Epileptic Encephalopathy Via Stabilization of Glutamine Synthetase

Amy G. Jones, Matilde Aquilino,Rory J. Tinker,Laura Duncan,Zandra Jenkins,Gemma L. Carvill,Stephanie J. Deward,Dorothy K. Grange,Mj Hajianpour,Benjamin J. Halliday,Muriel Holder-Espinasse,Judit Horvath,Silvia Maitz,Vincenzo Nigro,Manuela Morleo,Victoria Paul,Careni Spencer,Alina I. Esterhuizen,Tilman Polster,Alice Spano, Ines Gomez-Lozano,Abhishek Kumar,Gemma Poke,John A. Phillips,Hunter R. Underhill,Gregory Gimenez,Takashi Namba,Stephen P. Robertson

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

Cited 1|Views25
Key words
glutamine metabolism,degron motif,epileptic encephalopathies,GLUL,glutamine synthetase
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