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Updated: Jan 11, 2026

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在RNU2-2中存在的致病变体,一种非编码的结合体RNA,会导致独特的发育和脑病变

Annie T G Chiu1,2, Mark F Bennett1,3,4, Harshini Thiyagarajah1

  • 1Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.

Annals of neurology
|November 19, 2025
PubMed
概括

小核RNA (snRNA) RNU2-2中的致病变体会导致严重的发育性和性脑病变 (DEE). 这一发现突显了snRNAs作为这些罕见的神经疾病的重要遗传原因.

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