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Updated: Jun 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在法布里病的R363C变体中的表型变异性和性别悖论

Alison C Leslie1,2, Jeanine Jarnes3,4, Alia Ahmed3,4

  • 1University of Minnesota Medical School Minneapolis Minnesota USA.

JIMD reports
|January 17, 2025
PubMed
概括

在女性中,法布里病呈现复杂的症状,挑战了X链接的衰退观点. 现型变异性和生物标志物限制凸显了对疾病表现的进一步研究的需要.

关键词:
费布里病是什么意思 费布里病是什么意思莱索-GL-3 公司基因修饰剂 基因修饰剂 基因修饰剂脏疾病 脏疾病现型变异性的变化.

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