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Updated: Nov 27, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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希少で低周波のコード化変種は,成人の身長を変化させる

Eirini Marouli1, Mariaelisa Graff2, Carolina Medina-Gomez3,4

  • 1William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

Nature
|February 2, 2017
PubMed
まとめ

研究者らは 83の希少な遺伝子変異が ヒトの身長に重大な影響を及ぼし,そのうちのいくつかは アレルごとに 2cmまで身長を増やすことができました. これらの発見は 成長に影響を与える新しい生物学的経路を明らかにし 大規模な遺伝子研究の力を示しています

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