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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在22q11.2微删除部位编码的哈普洛因不足线粒体基因之间的抑制性遗传相互作用定义了大脑和心脏表现型

Meghan Wynne, Stephanie A Zlatic, Austin S Park

    bioRxiv : the preprint server for biology
    |January 16, 2026
    PubMed
    概括

    基因组变异,如22q11.2删除影响发展. 这项研究表明MRPL40和SLC25A1基因相互作用,影响心脏和行为表型,提供了对基因剂量效应的见解.

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