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Updated: Aug 17, 2026

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基因组测序重新分析增加了 dystonia 的诊断产量

Avi Fellner1, Gurusidheshwar M Wali2, Neil Mahant3

  • 1Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

Parkinsonism & related disorders
|May 21, 2024
PubMed
概括

在 dystonia 患者中重新分析基因组数据 (GS) 显著提高了诊断率. 定期重新评估现有的GS数据为以前未被诊断的个体提供了新的遗传诊断.

关键词:
诊断产出率是一个问题.迪斯托尼亚 (Dystonia) 是一种疾病.基因组测序是指基因组的测序.再次进行分析.

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