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Updated: Jun 26, 2025

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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关于阿舍尔综合征遗传谱的最新更新

Farman Ullah1, Muhammad Zeeshan Ali1, Safeer Ahmad1

  • 1Gomal Center of Biochemistry and Biotechnology, Gomal University, Pakistan.

Nucleosides, nucleotides & nucleic acids
|May 8, 2024
PubMed
概括

阿舍尔综合征 (USH) 是一种遗传性疾病,导致听力损失和视力受损. 这篇综述详细介绍了USH亚型,它们的遗传联系,以及Usher蛋白的功能,有助于诊断和咨询.

关键词:
阿舍尔综合征是什么意思阿舍尔综合征是什么意思候选USH基因的研究结果视网膜炎的颜色化感应神经神经听力损失

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