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Article

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

3 Jan 2020

Abstract excerpt

Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such as growth and proliferation, metabolism, autophagy, death, and survival. This study was aimed at identifying specific variants in mTOR signaling pathway...

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PMID: 32140648
DOI: 10.1002/epi4.12377

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