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Updated: Jul 9, 2025

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病例报告:一种改变mRNA拼接的新型WASHC5变异在一个病人身上引起了性

Shan-Yu Gao1,2,3, Yu-Xing Liu2,4, Yi Dong2

  • 1Department of Neurology, Changshu No. 2 People's Hospital, Changshu, China.

Frontiers in genetics
|November 29, 2023
PubMed
概括

在一个患有遗传性性的中国家庭中,发现了WASHC5基因的新型遗传变异. 这一发现提供了关键的遗传咨询数据,并强调了基因在引起这种神经退行性疾病中的作用.

关键词:
这就是WASHC5的原因.异构体的异构体是什么性残症是一种性残症.拼接变体的拼接变体整体外因子测序的测序

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