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Updated: Jul 15, 2025

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以表型为驱动的再分析揭示了40个外体阴性家族的5种新型致病变体,这些家族患有夏科特-玛丽-牙病

Zhiqiang Lin1,2, Lei Liu1,3, Xiaobo Li1

  • 1Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.

Journal of neurology
|September 30, 2023
PubMed
概括

这项研究在Charcot-Marie-Tooth (CMT) 家族中发现了新的遗传变异,这些变异先前对整个外基因组测序 (WES) 有负面影响. 由表型驱动的再分析显著增加了这些罕见的神经疾病的诊断产量.

关键词:
查尔科特玛丽牙病 牙疾病再次进行分析.变种 变种 变种 变种整个外基因组的测序.

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