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Updated: Sep 17, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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一个新的USP27X误解变体在一个智力障碍的个体中被发现

Sukun Luo1, Meng Zhang2, Xiankai Zhang1

  • 1Precision Medical Center, Tongji Medical College, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Huazhong University of Science and Technology, Wuhan, China.

Journal of human genetics
|July 2, 2025
PubMed
概括

这项研究确定了一种新的USP27X基因变异,与X相关的智力发育障碍-105 (XLID105) 有关. 鉴定出的变体对USP27X功能产生负面影响,扩大了已知的XLID的遗传原因.

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