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Updated: Jan 8, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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在淘汰细胞中的NDUFAF6变体的功能查和补充计算分析.

Feng Jiang1,2, Ayumu Sugiura1, Yoshihito Kishita3

  • 1Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

Journal of clinical laboratory analysis
|December 16, 2025
PubMed
概括

实验验证对于分类与线粒体疾病相关的NDUFAF6变体至关重要. 一个ATP测试有效地评估变体功能,帮助诊断.

关键词:
在NDUFAF6F6中.通过ATP测试进行测试.线粒体疾病是线粒体疾病.线粒体功能障碍 线粒体功能障碍不确定意义的变体.

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相关概念视频

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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