De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Rady Children's Hospital-San Diego · University of California, San Diego · +5 more institutions
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Abstract
No abstract available for this paper.
Citation impact
694
total citations
- FWCI
- 41.08
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- 100%
- References
- 42
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Authors
15- JHJeong Ho LeeCorresponding
Rady Children's Hospital-San Diego, University of California, San Diego
- MNMy N. Huynh
University of California, Los Angeles, Mattel Children's Hospital
- JLJennifer L. Silhavy
University of California, San Diego, Rady Children's Hospital-San Diego, Howard Hughes Medical Institute
- SKSangwoo Kim
University of California, San Diego
- TDTracy Dixon‐Salazar
University of California, San Diego, Rady Children's Hospital-San Diego, Howard Hughes Medical Institute
Topics & keywords
Topics
Keywords
- Biology
- Hemimegalencephaly
- PI3K/AKT/mTOR pathway
- Somatic cell
- Mutation
- Cancer research
- Megalencephaly
- Germline mutation
UN Sustainable Development Goals
- Good health and well-being
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