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Updated: Jul 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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对逃脱无意中介衰变的变体进行系统分析,揭示了候选孟德尔病

Rebecca I Torene1, Maria J Guillen Sacoto2, Francisca Millan2

  • 1GeneDx, Gaithersburg, MD, USA; Geisinger, Danville, PA, USA.

American journal of human genetics
|December 13, 2023
PubMed
概括

脱离无意中介衰变 (NMD) 的蛋白质缩减变体可以导致罕见疾病. 这项研究通过分析神经发育障碍三组中的这些变异来确定与疾病相关的新基因.

关键词:
门德尔病是门德尔病的一个疾病.这是一个NMD.在NMD逃生中,他们逃脱了NMD.临床遗传学 临床遗传学疾病 基因发现 基因发现突变频谱中的突变神经发育障碍 神经发育障碍胡说八道介导衰变的废话

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