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Updated: Jul 13, 2025

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在监管CRIPaK领域内的PAK1突变热点与儿童严重的神经发育障碍有关

Giovanna Scorrano1, Gianluca D'Onofrio2, Andrea Accogli3

  • 1Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.

Pediatric neurology
|October 11, 2023
PubMed
概括

PAK1基因的新变异会导致罕见的儿科神经发育障碍,包括和巨头. 这些发现指出了PAK1蛋白内潜在的治疗点.

关键词:
这里是CRIPaK域名.是一种病.神经发育障碍 神经发育障碍这就是PAK1的原因.

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