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Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Senta Schönnagel, Karen L Stals, Deirdre Donnelly, Siobhan O'Sullivan, John F Mantovani, Tiong Y Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, Severine Drunat, Yoann Vial, Xenia Latypova, Jonathan Levy, Alain Verloes, Jennefer N Carter, Devon E Bonner, Suma P Shankar, Jonathan A Bernstein, Julie S Cohen, Anne Comi, Deanna Alexis Carere, Lisa M Dyer, Sureni V Mullegama, Pedro A Sanchez-Lara, Katheryn Grand, Hyung-Goo Kim, Afif Ben-Mahmoud, Sidney M Gospe, Rebecca S Belles, Gary Bellus, Klaske D Lichtenbelt, Renske Oegema, Anita Rauch, Ivan Ivanovski, Frederic Tran Mau-Them, Aurore Garde, Rachel Rabin, John Pappas, Annette E Bley, Janna Bredow, Timo Wagner, Eva Decker, Carsten Bergmann, Louis Domenach,
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De novo variants in
KDM2A cause a syndromic neurodevelopmental disorder.
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