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Updated: Jul 17, 2025

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在TLK1中发现与神经发育障碍和免疫缺陷相关的de novo突变

Marina Villamor-Payà1,2, María Sanchiz-Calvo1, Jordann Smak2

  • 1Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona 08028, Spain.

medRxiv : the preprint server for health sciences
|September 4, 2023
PubMed
概括

新的研究功能性地描述了与神经发育障碍 (NDD) 相关的Tousled-like kinase 1 (TLK1) 变体. 这些变体损害了激酶活性,影响了DNA损伤和细胞因子信号传递,表明了更广泛的发育作用.

关键词:
神经发育障碍 神经发育障碍在STAT3中,我们可以使用STAT3.一个TLK1 TLK12 TLK2 TLK2 的时间.免疫缺陷是一种免疫缺陷.微头症是一个微头症.

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