Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F. Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S. Alkuraya, Janet Toribio, Rafael Mena, Carlos E. Prada, Holly Stessman, Raphael Bernier, Marieke Wermuth, Birgit Kauffmann, Bettina Blaumeiser, R. Frank KooyDiana Baralle, Grazia M.S. Mancini, Simon J. Conway, Fan Xia, Zhao Chen, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J. Lyon

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