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De novo germline and postzygotic mutations in AKT3, PIK3R2 ..:
Finding of Rare Disease Genes (FORGE) Canada Consortium
;
Rivière, Jean-Baptiste
;
Mirzaa, Ghayda M
...
Nature Genetics. 44 (2012) 8 - p. 934-940 , 2012
Link:
https://doi.org/10.1038/ng.2331
RT Journal T1
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2331&Exemplar=1&LAN=DE A1 Finding of Rare Disease Genes (FORGE) Canada Consortium A1 Rivière, Jean-Baptiste A1 Mirzaa, Ghayda M A1 O'Roak, Brian J A1 Beddaoui, Margaret A1 Alcantara, Diana A1 Conway, Robert L A1 St-Onge, Judith A1 Schwartzentruber, Jeremy A A1 Gripp, Karen W A1 Nikkel, Sarah M A1 Worthylake, Thea A1 Sullivan, Christopher T A1 Ward, Thomas R A1 Butler, Hailly E A1 Kramer, Nancy A A1 Albrecht, Beate A1 Armour, Christine M A1 Armstrong, Linlea A1 Caluseriu, Oana A1 Cytrynbaum, Cheryl A1 Drolet, Beth A A1 Innes, A Micheil A1 Lauzon, Julie L A1 Lin, Angela E A1 Mancini, Grazia M S A1 Meschino, Wendy S A1 Reggin, James D A1 Saggar, Anand K A1 Lerman-Sagie, Tally PB Springer Science and Business Media LLC YR 2012 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 44 IS 8 SP 934 OP 940 LK http://dx.doi.org/https://doi.org/10.1038/ng.2331 DO https://doi.org/10.1038/ng.2331 SF ELIB - SuUB Bremen
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