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Updated: Jan 7, 2026

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小说 KMT5B 德诺沃变体破坏了智力障碍的DNA损伤反应

Xiaofeng Hu1, Rui Tao2,3,4, Yuting Wang5

  • 1Department of Radiology, First Affiliated Hospital of University of Science and Technology of China, Anhui, Hefei, 230001, China.

QJM : monthly journal of the Association of Physicians
|December 24, 2025
PubMed
概括

两种新的KMT5B基因变异破坏了蛋白质的稳定,破坏了DNA损伤反应,并可能导致智力障碍 (ID). 这扩大了ID和KMT5B相关疾病的已知遗传原因.

关键词:
在KMT5B中,KMT5B是KMT5B.对DNA损伤的反应反应智力障碍 智力障碍是一种智力障碍.在新的 de novo.蛋白质的稳定性 蛋白质的稳定性

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