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Updated: Feb 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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预测TSHR的致病性 意义不明的错误变体:一个综合计算研究

Tassneem Awad Hajali1, Islamia Ibrahim Ahmed Omer1, Mohamad Y Rezk2

  • 1Department of Clinical Science, College of Medicine, Sulaiman AlRajhi University, P.O. Box 777, AlBukayriah 51941, Qassim, Saudi Arabia.

International journal of molecular sciences
|February 13, 2026
PubMed
概括

生物信息学分析确定了三种不确定意义的甲状腺刺激激素受体基因 (TSHR) 变异,作为致病性. 这些TSHR变体可能通过影响受体结构和信号传递而导致甲状腺功能障碍.

关键词:
遗传性甲状腺功能低下症是先天的遗传学 遗传学 遗传学 是一个错误的意义变体的变体甲状腺功能障碍 甲状腺功能障碍不确定意义的不确定的意义.

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