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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

2021Genetics in Medicine19 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationAutophosphorylationZebrafishPhenotypeBiologyPhosphorylationGeneticsProtein kinase AGeneGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants | Litcius