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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations by Anton Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S. Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna Raper, Trust Odia, Bradley S. Wubbenhorst, Elsa Faulders, Elisabeth M. Schuth, Kate Loranger, Jingwen Zhang, Carly Bess Scalise, Adam ElNaggar, Youbao Sha, Stephanie A. Felker, Jeffrey Weitzel, Staci Kallish, Marylyn D. Ritchie, Penn Medicine BioBank, Katherine L. Nathanson, Theodore G. Drivas
Published 2025-04-01Get full text
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