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Updated: May 12, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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单细胞分析显示,在人类神经发育条件下,基因表达变异性增加

Suraj Upadhya1, Jenny A Klein1, Anna Nathanson1

  • 1Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.

American journal of human genetics
|March 8, 2025
PubMed
概括

神经发育状况,如唐氏综合征 (三体性 21) 和CHD8哈普隆缺陷症,增加了脑细胞中的基因表达变异性. 这种增加的变异性可能解释了这些条件下的各种表型结果.

关键词:
在CHD8中,国家电力公司 (NPCs) 是国家电力公司.自闭症自闭症是什么自体异位积症自体异位积症基因表达的基因表达方式神经发育 神经发育转录 转录 是一种转录.三合症 21 的三合症 21.变化的可变性.

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