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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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进一步证实了RNU4ATAC变异导致乔伯特综合征与骨参与的进一步证据

Fulvio D'Abrusco1, Simone Gana1, Enrico Alfei2

  • 1Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.

Journal of medical genetics
|September 11, 2025
PubMed
概括

RNU4ATAC基因中的致病变体与涉及骨和神经问题的复杂纤毛病有关,包括牙标志. 通过重新分析外基因组测序数据,在伯特综合征患者中确定了这些非编码变异.

关键词:
遗传学 遗传学 遗传学 是一个

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