CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Yuri A. Zárate, 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, María J. Guillen Sacoto, Rhonda E. Schnur, Michelle M. Morrow, Amarilis Sanchez‐Valle, John Pappas, Rachel 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
Topics & Concepts
Missense mutationAutophosphorylationZebrafishPhenotypeBiologyPhosphorylationGeneticsProtein kinase AGeneGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases