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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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通过外体数据再分析检测到的致病性隐秘变异显著增加了乔伯特综合征的诊断产量

Fulvio D'Abrusco1, Valentina Serpieri1, Cecilia Maria Taccagni1

  • 1Department of Molecular Medicine, University of Pavia, Pavia, Italy.

European journal of human genetics : EJHG
|October 11, 2024
PubMed
概括

重新分析外基因组测序数据,在朱伯特综合征 (JS) 患者中发现了神秘的遗传变异. 这种方法使诊断产量增加了24%,揭示了之前错过的纤毛病基因突变.

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