medRxiv · 独立预印本· Aoki, T.; Fukuhara, Y.; So, T.; Igarashi, A.; Yamamori, M.; Yanagi, K.; Kawai, T.; Kosaki, R.; Kurosawa, K.; Matsubara, Y.; Kaname, T.·· 12 天前
行业资料：CREBBP variants underlying Menke-Hennekam syndrome exhibit histone acetyltransferase hyperactivity with divergent phase behaviors
CREBBP variants underlying Menke-Hennekam syndrome exhibit histone acetyltransferase hyperactivity with divergent phase behaviors
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原文摘录：Menke-Hennekam syndrome (MKHK) is a neurodevelopmental disease characterized by specific pathogenic regions within the transcriptional coactivator CREB-binding protein (CREBBP).
来源：medRxiv · 独立预印本 · doi.org