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Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA , PIK3R2 , AKT3 , and MTOR

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Year: 2019
Type: review
Source: American Journal of Medical Genetics Part C Seminars in Medical Genetics
DOI: 10.1002/ajmg.c.31736
Authors: William B. Dobyns, Ghayda M. Mirzaa
Institutions: University of Washington, Seattle Children's Research Institute
Language: English

Topic: PI3K/AKT/mTOR signaling in cancer
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke
Awards: Genes and pathways underlying brain overgrowth and focal cortical malformations, G53048682, Megalencephaly and segmental brain overgrowth in humans
OpenAlex ID: W2969771542
FWCI: 1.276
Cites: 42
Cited by: 97
Related to: 10
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