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Updated: Sep 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在VARS2中出现的新型变异证明了对氨酸补充反应的罕见线粒体病变的表型变异性

Jonathan Marquez1, Stephen Viviano2,3, Fahmid Rahman2,3

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.

Journal of inherited metabolic disease
|June 26, 2025
PubMed
概括

由VARS2基因变异引起的线粒体病变表现出各种症状. 氨酸补充剂可能有所帮助,但其有效性取决于VARS2相关疾病中的残留酶活性.

关键词:
它们是Xenopus tropicalis.这就是VARS2的VARS2.氨基酸转移酶是一种氨基酸转移酶.线粒体中的线粒体.瓦林是指一种瓦林类药物.

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