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

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Title: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Authors: Rivière JB; Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA., Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
Corporate Authors: Finding of Rare Disease Genes (FORGE) Canada Consortium
Source: Nature genetics [Nat Genet] 2012 Jun 24; Vol. 44 (8), pp. 934-40. Date of Electronic Publication: 2012 Jun 24.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2012 Jun 24; Vol. 44 (8), pp. 934-40. <i>Date of Electronic Publication: </i>2012 Jun 24.
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