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Updated: May 21, 2025

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

Published on: August 20, 2019

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罕见的异合体神经素-1 缺失的表型复杂性

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
概括

与神经精神疾病相关的NRXN1缺失会对脑细胞功能产生不同的影响. 精确医学需要通过功能丧失或功能获取机制对患者进行分层,以适应NRXN1疗法.

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