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Updated: Jun 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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对ABCA4误解变体的功能性表征有助于对ABCA4视网膜变症患者的变体解释和表型预测

Sigrid Aslaksen1,2, Ingvild Aukrust1,2, Laurie Molday3

  • 1Department of Clinical Science, University of Bergen, Bergen, Norway.

Investigative ophthalmology & visual science
|August 1, 2024
PubMed
概括

对ABCA4变异的功能分析有助于对导致遗传性视网膜变的遗传突变进行分类. 这项研究重新分类了几种变异,改善了ABCA4相关视网膜疾病患者疾病严重程度的预测.

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