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AMERICAN JOURNAL OF HUMAN GENETICS
Collezione AOU Novara
Items : 1
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
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;