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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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小说CYFIP2框架转移变体与动力障碍危机有关:功能研究显示细胞移动性受损

María Eugenia Amato1,2, Marcos Frías3,4, Alfredo Cerisola5,6

  • 1Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

Clinical genetics
|May 27, 2025
PubMed
概括

一种新的CYFIP2基因变异会导致发育早期和性脑病变 (DEE),并导致严重的运动障碍,包括动力障碍危机. 这一发现扩大了对CYFIP2的理解.

关键词:
在CYFIP2中.雅丁丝片 雅丁丝片 雅丁丝片细胞移动性的细胞移动性发育性和性脑病变 (DEE)功能失调的危机 功能失调的危机智力障碍 智力障碍是一种智力障碍.

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