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在患有的儿科患者中基于外体测序的诊断效率

Huafang Zou1,2, Qian Zhang3, Jianxiang Liao1,2

  • 1Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.

Frontiers in genetics
|February 5, 2025
PubMed
概括

下一代测序 (NGS) 有效地诊断儿科,面板显示的诊断产量最高. 对于复杂的遗传性病例,整体外基因组测序 (WES) 越来越受青.

关键词:
是一种.基因诊断 基因诊断 基因诊断这是下一代测序.发作 发作 发作整体外基因组测序的测序

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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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