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Dominant missense mutations in ABCC9 cause CantĂș syndrome
(Nature Genetics) Friday May 18th 2012
Author(s): Magdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, Stef van Lieshout, Karen Duran, Ivo Renkens, David J D Amor, Louise C Wilson, Edwin P Kirk, Claire L S Turner, Debbie Shears, Sixto Garcia-Minaur, Melissa M Lees, Alison Ross, Hanka Venselaar, Gert Vriend, Hiroki Takanari, Martin B Rook, Marcel A G van der Heyden, Folkert W Asselbergs, Hans M Breur, Marielle E Swinkels, Ingrid J Scurr, Sarah F Smithson, Nine V Knoers, Jasper J van der Smagt, Isaac J Nijman, Wigard P Kloosterman, Mieke M van Haelst, Gijs van Haaften, Edwin Cuppen,
DOI:10.1038/ng.2324

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