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Updated: Jun 29, 2025

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结核性硬化复杂和相关的mTORopathies的遗传学:当前的理解和未来的方向

Alice Man1, Matteo Di Scipio1, Shan Grewal1

  • 1Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.

Genes
|March 28, 2024
PubMed
概括

拉巴胺素 (mTOR) 途径的机械性标调节细胞生长. 调节失调会导致像结核性硬化综合体 (TSC) 这样的mTOR病变,与TSC1/TSC2基因变异有关,影响疾病的严重程度和诊断.

关键词:
焦点皮层发育不良症遗传性是一种遗传性.基因检测 基因检测是指基因检测.在mTOR病变中.皮层发育的形.马赛克主义的马赛克主义.精准医学是一门精准医学.结核性硬化综合体 结核性硬化综合体

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