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Updated: Jan 21, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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フィンランドの単離物のエクソーム配列化は,希少変異の結合力を高める

Adam E Locke1,2,3, Karyn Meltz Steinberg2,4, Charleston W K Chiang5,6,7

  • 1Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.

Nature
|August 2, 2019
PubMed
まとめ

フィンランドのエクソーム配列解析は,定量的な心代謝特性を示す26の新しい有害アレルを特定し,そのうち19はフィンランドの集団に特有である. これは遺伝子研究における 孤立した集団の力を強調しています

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