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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. in American journal of human genetics / Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005.
2024
AOU Novara
AOU Novara
Jones AG; Aquilino M; Tinker RJ; Duncan L; Jenkins Z; Carvill GL; DeWard SJ; Grange DK; Hajianpour MJ; Halliday BJ; Holder-Espinasse M; Horvath J; Maitz S; Nigro V; Morleo M; Paul V; Spencer C; Esterhuizen AI; Polster T; Spano A; Gómez-Lozano I; Kumar A; Poke G; Phillips JA 3rd; Underhill HR; Gimenez G; Namba T; Robertson SP;
BRAT1 Mutation Retrospective Diagnosis: A Case Report. in Cureus / Cureus. 2023 Mar 1;15(3):e35655. doi: 10.7759/cureus.35655. eCollection 2023 Mar.
2023
AOU Alessandria
AOU Novara
AOU Alessandria
AOU Novara
Spano A; Dusio MP; Valerio M; Vercellino F; D'Alfonso S;