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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K

幼児の急発性神経精神症候群におけるDNA損傷修復とミトコンドリア遺伝子の極まれな変異および神経発達障害における急性行動回帰

Dhanya Vettiatil, Anjana Soorajkumar, Robert A Dubine

    medRxiv : the preprint server for health sciences
    |September 2, 2025
    PubMed
    まとめ

    DNA損傷反応 (DDR) とミトコンドリア経路の遺伝的変異は小児神経精神疾患に関連しています. 腸内微生物群の恒常性への新しい遺伝的リンクも特定され,新しい治療目標を示唆した.

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