Rare De Novo Gain-of-function Missense Variants in DOT1L Are Associated with Developmental Delay and Congenital Anomalies.
AMERICAN JOURNAL OF HUMAN GENETICS（2023）
关键词
DOT1 Like histone lysine methyltransferase,DOT1L,histone lysine methyltransferase,H3K79 methylation,Drosophila,grappa,gpp,gain of function,developmental delay,congenital anomalies
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