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Updated: Jul 8, 2025

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qMini测试确定了一个被忽视的拼接变体类别

Bin Guan1, Chelsea Bender1, Madhulatha Pantrangi2

  • 1Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.

medRxiv : the preprint server for health sciences
|December 11, 2023
PubMed
概括

引起疾病的拼接变体通常会改变mRNA序列. 我们的研究发现了一种新的拼接变异类别,可以在不改变序列的情况下降低成熟的mRNA水平,从而揭示出一种新的疾病机制.

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