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Updated: May 26, 2025

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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功能丧失 SPTAN1 变体导致心力衰竭和智力障碍

Po-Nien Lu1, Chandler Melton2,3, Barbara Dupont1

  • 1Greenwood Genetic Center, Greenwood, South Carolina, USA.

Clinical genetics
|February 23, 2025
PubMed
概括

在SPTAN1中功能丧失的变体会导致一系列神经发育障碍,包括婴儿早期脑病. 补充D-酸盐可能会改善受影响个体的运动功能.

关键词:
在SPTAN1中,我们可以使用SPTAN1.过敏性过敏症 (ataxia) 是一种导致过敏性过敏的疾病.功能研究 功能研究在光谱中,我们看到的是光谱.斑马鱼是一种斑马鱼.

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