Homo sapiens cDNA FLJ35555 fis, clone SPLEN2004773, highly similar to - Nucleotide

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. [Am J Hum Genet. 2024]
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, et al. Am J Hum Genet. 2024 Apr 4; 111(4):729-741.
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase. [Epilepsy Res. 2024]
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.
Buccoliero AM, Caporalini C, Moscardi S, Cetica V, Mei D, Conti V, Nozzoli F, Bonaudo C, Battista F, Giordano F, et al. Epilepsy Res. 2024 Jan; 199:107258. Epub 2023 Nov 21.
Glutamine synthetase and hepatocellular carcinoma. [Clin Res Hepatol Gastroenterol...]
Glutamine synthetase and hepatocellular carcinoma.
Jiang J, Hu Y, Fang D, Luo J. Clin Res Hepatol Gastroenterol. 2023 Dec; 47(10):102248. Epub 2023 Nov 16.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the GLUL gene.

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Nucleotide