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Updated: Jul 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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主要复杂运动刻板印象与新的破坏性DNA编码突变有关,这些突变将KDM5B确定为风险基因

Thomas V Fernandez1,2, Zsanett P Williams3, Tina Kline4

  • 1Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.

PloS one
|October 3, 2023
PubMed
概括

基因分析揭示了运动刻板印象的新风险基因,这是自闭症谱系障碍 (ASD) 和其他发育状况的共同特征. 这项研究确定了与这些重复运动相关的特定基因变异.

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