CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zarate^*, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Katherine Anderson, David Viskochil, Courtney L. Edgar-Zarate, Maria J.Guillen Sacoto, Rhonda E. Schnur, Michelle M. Morrow, Amarilis Sanchez-Valle, John PappasRachel Rabin, Mikko Muona, Anna Kaisa Anttonen, Konrad Platzer, Johannes Luppe, Janina Gburek-Augustat, Tadashi Kaname, Nobuhiko Okamoto, Seiji Mizuno, Yusaku Kaido, Yoshiaki Ohkuma, Yutaka Hirose, Tohru Ishitani, Kenjiro Kosaki表示 14 その他簡易表示