Research progress in diseases associated with genetic variants of GATOR1 complex].

The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.

Citation

Meng Yuan, Huan Luo, Xueyi Rao, Jing Gan. Research progress in diseases associated with genetic variants of GATOR1 complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2023 Jul 10;40(7):887-891

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PMID: 37368396

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