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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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RNU2-2のバイアレル型変異は,最も一般的な既知の後退性神経発達障害を引き起こす

Daniel Greene, Rodrigo Mendez, Jon Lees

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

    神経発達障害 (NDD) に関連したRNU2-2症候群のリセシブ形態は,その支配的な形態よりも一般的です. この発見は NDD の新しい遺伝的原因を強調し 遺伝的カウンセリングに情報を与えます

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