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Updated: Feb 24, 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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双的DAW1变体显示了在异质毒性中具有组织特异性的作用,而没有原发性纤毛功能障碍

Saurabh Kulkarni, Dana Urbatsch, Anburaj Jeyaraj

    Research square
    |February 23, 2026
    PubMed
    概括

    在DAW1基因的缺陷导致异质毒性和先天性心脏病,通过破坏毛功能. 本研究阐明了DAW1变异分类及其对特定发育过程的影响.

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