GATOR1复合物基因变异相关疾病的研究进展
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）
Abstract
GATOR1复合物位于mTOR信号通路上游，能够调控mTORC1的功能。GATOR1复合物基因变异与癫痫、发育迟缓、脑皮质发育畸形及肿瘤等疾病密切相关。本文拟就GATOR1复合物基因变异相关疾病的研究进展进行综述，旨在为该类患者的诊疗提供参考方案。
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Key words
gator1 complex,genetic variants
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