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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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原因不明の肝疾患の成人のエクソームシーケンシング:診断結果と臨床効果

Kenan Moral1, Gülsüm Kayhan2, Tarik Duzenli2

  • 1Division of Gastroenterology and Hepatology, Department of Internal Medicine, Gazi University, Ankara 06560, Turkey.

Diagnostics (Basel, Switzerland)
|August 28, 2025
PubMed
まとめ

肝臓疾患の説明が不可能な成人患者の11%において,全エクソーム配列解析 (WES) が成功し,重要な遺伝子やモザイクターナー症候群の希少変異を含む,診断を改善しました.

キーワード:
エクソーム配列分析ヘパトロジーのゲノミクス希少な肝臓疾患診断されていない肝疾患

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