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Updated: May 29, 2025

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新型异合体ASH1L无意义变体涉及轻度智力障碍

Baoqiong Liao1,2, Wuming Xie3, Shuwen He4

  • 1Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China.

Frontiers in neurology
|February 4, 2025
PubMed
概括

在一个患有轻度智力障碍 (ID) 的患者身上发现了ASH1L基因的新奇无意义突变. 这一遗传发现揭示了与ASH1L变异相关的神经发育障碍背后的分子机制.

关键词:
在 ASH1L 中.WES - 整体外因子测序 - 全外因子测序智力障碍 智力障碍是一种智力障碍.神经科学 神经科学一种感觉突变突变.

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