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Updated: Jan 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在UBTF基因中的Frameshift变异与神经发育障碍有关

Sheng Yi1, Lingyun Fan2, Qiang Zhang1

  • 1Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Birth Defects, Guangxi Clinical Research Center for Pediatric Diseases, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Clinica chimica acta; international journal of clinical chemistry
|January 14, 2026
PubMed
概括

上游绑定转录因子 (UBTF) 基因中的新框架转移变异会导致神经发育延迟,而不会引起神经回归. 这扩大了已知的UBTF基因疾病谱,并有助于基因型-表型相关性.

关键词:
另一个替代拼接方法.外体序列的排序是如何进行的智力障碍 智力障碍是一种智力障碍.功能丧失的变体.降解RNA的降解RNA的降解与UBTF相关的疾病.

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