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Updated: May 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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希少なヘテロジゴスなニューレキシン-1欠失のフェノタイプの複雑性

Michael B Fernando1,2,3,4, Yu Fan5, Yanchun Zhang5

  • 1Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nature
|April 9, 2025
PubMed
まとめ

神経精神疾患に関連したNRXN1欠失は脳細胞機能に異なった影響を及ぼします. 精密医療では,NRXN1に合わせた治療のために,機能の喪失または機能の獲得メカニズムによって,患者を層分けする必要があります.

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