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Updated: Jun 11, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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ReNU综合征 - 一种新发现的流行神经发育障碍

Vanessa F Burns1, Elizabeth J Radford2

  • 1Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.

Trends in genetics : TIG
|October 2, 2024
PubMed
概括

RNU4-2基因中的遗传变异与一种常见的神经发育障碍有关. 这一发现通过探索非编码遗传区域,为罕见疾病开辟了新的诊断途径.

关键词:
这是RNU4-2综合征.这是ReNU综合征.神经发育障碍是一种神经发育障碍.没有编码的非编码.罕见病是一种罕见的疾病.这是一个小核RNARNA.

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