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Updated: Feb 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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TSHRの病原性を予測する 重要性が不明なミッセンスの変種: 統合的コンピューティング研究

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
まとめ

バイオインフォマティックスの分析により,三つの甲状腺刺激ホルモン受容体遺伝子 (TSHR) 変種が病原性として不確実な意味を持つことが判明しました. これらのTSHR変種は,受容体の構造とシグナル伝達に影響を与えることで,甲状腺機能障害を引き起こす可能性があります.

キーワード:
生まれながらの甲状腺機能低下症遺伝学 遺伝学 遺伝学とはミッセンセスの変種 ミッセンセスの変種甲状腺機能障害は,甲状腺の機能不全によるものです.不確実な意味を持つ,不確実な意味を持つ

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