评估整个外因组测序的结果导致神经遗传性疾病

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Özgür Balasar1, Müşerref Başdemirci2

  • 1Department of Medical Genetics, Konya City Hospital, Konya, Turkey. ozgbalasar@hotmail.com.

Journal of human genetics
|July 31, 2023
PubMed
概括

整个外体序列测序 (WES) 对于诊断罕见的神经遗传性疾病是有效的,在以前未被诊断的患者中达到46%的诊断率. 这种基因测试有助于早期诊断,影响受影响家庭的治疗和计划生育.

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