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Updated: Sep 9, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在RNU2-2中双类变异导致已知最常见的衰退性神经发育障碍

Daniel Greene, Rodrigo Mendez, Jon Lees

    medRxiv : the preprint server for health sciences
    |September 5, 2025
    PubMed
    概括

    与神经发育障碍 (NDD) 相关的RNU2-2综合征的衰退形式比其主导形式更为常见. 这一发现突显了NDD的新遗传原因,

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