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Updated: Jan 7, 2026

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RNA测序在神经发育障碍中提供了新的诊断机会:系统性审查

Jessica Rosenblum1, Ellen Rijckmans2, Randy Osei3

  • 1Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem, Belgium; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.

Genetics in medicine : official journal of the American College of Medical Genetics
|December 25, 2025
PubMed
概括

RNA测序 (RNAseq) 显著改善了神经发育障碍的诊断,平均增加了15.5%的诊断产量. 这一系统性审查强调了RNAseqq的重点.

关键词:
遗传诊断 遗传诊断 遗传诊断 是一种神经发育障碍 神经发育障碍有关RNA测序的RNA测序文字转录学 (Transcriptomics) 是一个学科.

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