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Updated: Jan 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Published on: August 20, 2019

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病例报告和文献综述与DOT1L变体相关的神经发育综合征

Aurélien Caux1, Florence Jobic2, Boris Keren3

  • 1Clinical Genetics Department, CHU Amiens Picardie, Amiens, France; Constitutional Genetics Laboratory, CHU Amiens Picardie, and UR4666HEMATIM, University of Picardie Jules Verne, Amiens, France; Multi-site Medical Biology Laboratory SeqOIA, Paris, France.

Gene
|December 31, 2025
PubMed
概括

这是DOT1L基因.

关键词:
染色体病变是一种染色体病变.DOT1LL 在线播放基因组测序是指基因组的测序.基因组 lysine 甲基转移酶 的作用.神经发育障碍是一种神经发育障碍.

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