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

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3 Citations (Scopus)

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Medicine & Life Sciences