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Updated: Sep 12, 2025

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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罗宾诺综合征中的致病性DVL框架转移变体破坏了WNT信号传递和细胞动态

Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun

    bioRxiv : the preprint server for biology
    |August 6, 2025
    PubMed
    概括

    致病性DVL基因变异导致罗宾诺综合征,通过阻止DVL蛋白重新定位和WNT激活来破坏WNT信号传递. 这些发现澄清了这种罕见遗传疾病背后的细胞机制.

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