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Updated: Jan 10, 2026

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基因伪基因倒置作为遗传性缺失的隐藏来源

Ilaria Quartesan1, Stefano Facchini1,2, Arianna Manini3

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

medRxiv : the preprint server for health sciences
|November 24, 2025
PubMed
概括

以前未被发现的基因伪基因逆转是夏科特-玛丽-图斯神经病变的重要原因. 长读测序揭示了这些结构变异有助于遗传疾病.

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