William Dobyns to Mutagenesis, Site-Directed
This is a "connection" page, showing publications William Dobyns has written about Mutagenesis, Site-Directed.
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 01; 140(10):2610-2622.
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr; 92(2):263-71.
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