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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

Author/s

author: Jay Shendure, Tally Lerman-Sagie, Mark O'Driscoll, Brian J O'Roak, Linlea Armstrong, Jeremy Schwartzentruber, William B. Dobyns, Kym M Boycott, Jacek Majewski, Oana Caluseriu, Wendy S Meschino, Chandree L Beaulieu, Dennis E Bulman, A. Micheil Innes, Karen Gripp, Judith St-Onge

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Work details

Publication date
August 2012
- -
Language
English

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