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Updated: Jun 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Published on: December 1, 2017

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在U2 snRNA基因RNU2-2P的突变导致严重的神经发育障碍与突出的

Daniel Greene, Koenraad De Wispelaere, Jon Lees

    medRxiv : the preprint server for health sciences
    |September 16, 2024
    PubMed
    概括

    编码U2小核RNA的RNU2-2P基因的突变导致神经发育障碍. 这一发现突显了结合体snRNAs在大脑发育和疾病中的作用.

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