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Updated: Jun 17, 2025

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在IFT140中异性功能丧失变体与多囊性病相关

Dinah Clark1, Robert Burns1, Michelle S Bloom1

  • 1Natera, Inc., Austin, Texas, USA.

American journal of medical genetics. Part A
|August 13, 2024
PubMed
概括

在许多患者中,IFT140的功能丧失变异会导致自身主导的多囊性病 (ADPKD),特别是当没有发现其他遗传原因时. 这一发现凸显了IFT140作为ADPKD发展中的关键基因.

关键词:
IFT140 的意思是基因检测 基因检测是指基因检测.多囊性脏疾病多囊性脏疾病变种 变种 变种 变种 变种

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