Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase-Reference-Cited by-同舟云学术

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

Published:2024-04 Issue:4 Volume:111 Page:729-741
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

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