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Updated: Jun 14, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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非编码变异是一种罕见的发育衰退性障碍的原因,与编码变异发生交换

Jenny Lord1, Carolina J Oquendo2, Htoo A Wai2

  • 1School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, United Kingdom.

Genetics in medicine : official journal of the American College of Medical Genetics
|September 7, 2024
PubMed
概括

这项研究表明,非编码变体可以在罕见的发育障碍 (DDs) 中充当"第二次打击". 一种系统的方法在3个探头中确定了可能的诊断,这表明这种机制是DDS的罕见原因.

关键词:
临床遗传测试 临床遗传测试基因组学就是基因组学.没有编码的变体.罕见的疾病 罕见的疾病衰退性疾病 衰退性疾病

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