Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes nager syndrome

Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Gregor Andelfinger, Victoria Siu, Julie Lauzon, Bridget A. Fernandez, Margaret McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. NickersonJay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

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Medicine & Life Sciences