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Updated: Jan 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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新的编码变体的独特模式有助于图雷特综合征的病因学

Lingyu Zhan, Dongmei Yu, Franjo Ivankovic

    bioRxiv : the preprint server for biology
    |November 24, 2025
    PubMed
    概括

    罕见的de novo突变显著增加图雷特综合征 (TS) 风险,特别是在不能容忍功能丧失变异的基因中. 这种遗传结构不同于自闭症谱系障碍 (ASD),识别了新的TS候选基因.

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