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Updated: Jul 20, 2025

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蛋白酸酶1调节子单元3F (PPP1R3F) 中的半身变异与一种神经发育障碍有关,其特征是发育迟缓,智力障碍和自闭症特征

Zhigang Liu1, Baozhong Xin2, Iris N Smith1

  • 1Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.

Human molecular genetics
|August 2, 2023
PubMed
概括

新的研究确定了蛋白质酸酶1调节子单元3F (PPP1R3F) 中的半体变异,与一种新的X相关神经发育障碍有关. 这一发现突出了PPP1R3FF.

关键词:
在PPP1R3F中,PPP1R3F是什么?这是一个X-linked.发育延迟的发展延迟.糖原的代谢 糖原的代谢智力障碍 智力障碍是一种智力障碍.蛋白质酸酶 1 蛋白质酸酶 1发作 自闭症 自闭症

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