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Updated: Jun 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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新兴变异,独特的表型和转录基因特征:对COASY相关疾病的综合研究

Chiara Cavestro1, Francesca Morra1, Andrea Legati1

  • 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Annals of clinical and translational neurology
|May 15, 2024
PubMed
概括

在COASY基因的突变导致罕见的神经退行性疾病. 这项研究扩大了已知的症状,揭示了包括和发育问题在内的更广泛的范围,并突出了线粒体功能障碍.

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