De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith +33 more·2012·Nature Genetics
DOI 10.1038/ng.2331
Cited by (742)
Items 601–700 of 742
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- Faculty Opinions recommendation of Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Christel Depienne · 2017 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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- Faculty Opinions recommendation of Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.Keith Adam Choate · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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