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Updated: May 7, 2025

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通过研究E209K和E211K突变来了解PACS2综合征的病理机制

Arkadiusz Zbikowski1, Tomasz Kowalczyk1, Petr Kasparek2

  • 1Clinical Research Centre, Medical University of Bialystok, Bialystok, Poland.

Mammalian genome : official journal of the International Mammalian Genome Society
|December 31, 2024
PubMed
概括

酸酸集群分类蛋白2 (PACS2) 突变导致PACS2综合征,导致发育性和性脑病变. 研究正在通过iPSC和小鼠模型推进理解,以探索细胞影响和开发疗法.

关键词:
在DEE6666中,它是DEE66的.发育性性脑病变-66 发育性性脑病变-66鼠标模型模型这就是PACS2综合征.极为罕见的 极为罕见的

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