De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes (Q24627067)

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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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    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes (English)
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    Jean-Baptiste Rivière
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    Ghayda M Mirzaa
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    Margaret Beddaoui
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    Diana Alcantara
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    Robert L Conway
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    Judith St-Onge
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    Sarah M Nikkel
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    Thea Worthylake
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    Christopher T Sullivan
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    Thomas R Ward
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    Hailly E Butler
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    Nancy A Kramer
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    Beate Albrecht
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    Christine M Armour
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    Cheryl Cytrynbaum
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    Beth A Drolet
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    Julie L Lauzon
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    Angela E Lin
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    Grazia M S Mancini
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    James D Reggin
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    Anand K Saggar
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    Gökhan Uyanik
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    Rosanna Weksberg
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    Birgit Zirn
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    John M Graham
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    August 2012
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    44
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    934-40
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    8
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