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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh
Published 2012-01-01
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Erythrocytosis associated with a novel missense mutation in the BPGM gene by Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, Sally E. Haggan, Celeste M. Bento, Holger Cario, Melanie J. Percy, The WGS Consortium, Peter J. Ratcliffe, Peter A. Robbins, Mary Frances McMullin, Peter Donnelly, John Bell, David Bentley, Gil McVean, Peter Ratcliffe, Jenny Taylor, Andrew Wilkie, Peter Donelly, John Broxholme, David Buck, Jean-Baptiste Cazier, Richard Cornall, Lorna Gregory, Julian Knight, Gerton Lunter, Gil McVean, Ian Tomlinson, Andrew Wilkie, David Buck, Christopher Allan, Moustafa Attar, Angie Green, Lorna Gregory, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Gil McVean, Peter Donnelly, Jean-Baptiste Cazier, John Broxholme, Richard Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Gerton Lunter, Hilary Martin, Lisa Murray, Davis McCarthy, Andy Rimmer, Natasha Sahgal, Ben Wright, Chris Yau
Published 2014-10-01
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