학술논문
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Document Type
Article
Author
Nil, Z.; Huang, Y.; Barish, S.; Kanca, O.; Wangler, M.F.; Yamamoto, S.; Bellen, H.J.; Deshwar, A.R.; Zon, J.; Cytrynbaum, C.; Jobling, R.; Weksberg, R.; Costain, G.; Choufani, S.; Zhang, X.; Mao, X.; Le Quesne Stabej, P.; Hayes, I.; Yap, P.; Haldeman-Englert, C.; Wilson, C.; Prescott, T.; Tveten, K.; Vøllo, A.; Haynes, D.; Wheeler, P.G.; Blyth, M.; Banka, S.; Afenjar, A.; Mignot, C.; Robin-Renaldo, F.; Keren, B.; Wegner, D.J.; Sisco, K.; Shinawi, M.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 November 2023, 110(11):1919-1937)
Subject
Language
English
ISSN
15376605
00029297
00029297