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Updated: Aug 16, 2026

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在Caenorhabditis elegans中对人类疾病Missense变体的功能测试,通过准COQ2变体

Gee-Yoon Lee1, Se Jin Kim2, Hyunwoo C Kwon1

  • 1Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.

Kidney international reports
|October 27, 2025
PubMed
概括

确定错误变异在人类疾病基因中的影响是具有挑战性的. 这项研究表明,线虫C. elegans作为评估这些变体的有效模型,有助于理解遗传疾病.

关键词:
凯诺哈比迪斯的优雅的植物.人类遗传疾病人类遗传疾病错误的意义的变体

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