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Updated: Jun 21, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在COX18中双变异导致线粒体疾病,主要表现为外围神经病变

Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant

    medRxiv : the preprint server for health sciences
    |July 15, 2024
    PubMed
    概括

    查洛-玛丽-牙病 (CMT) 可能是由新型基因COX18引起的,该基因对线粒体复合体IV组装至关重要. 这一发现扩大了对CMT的理解.

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