학술논문
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Document Type
Article
Author
Zarate, Y.A.; Uehara, T.; Kosaki, K.; Abe, K.; Oginuma, M.; Ishitani, S.; Ishitani, T.; Harako, S.; Kaido, Y.; Ohkuma, Y.; Hirose, Y.; Lehesjoki, A.-E.; Muona, M.; Anttonen, A.-K.; Bierhals, T.; Kloth, K.; Ehmke, N.; Horn, D.; Holtgrewe, M.; Anderson, K.; Viskochil, D.; Edgar-Zarate, C.L.; Sacoto, M.J.G.; Schnur, R.E.; Morrow, M.M.; Sanchez-Valle, A.; Pappas, J.; Rabin, R.; Platzer, K.; Luppe, J.; Gburek-Augustat, J.; Kaname, T.; Okamoto, N.; Mizuno, S.
Source
In: Genetics in Medicine . (Genetics in Medicine, June 2021, 23(6):1050-1057)
Subject
Language
English
ISSN
15300366
10983600
10983600