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Updated: Jun 24, 2025

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在Charcot-Marie-Tooth下一代测序:改进ACMG变种评估指南的建议

Alessandro Geroldi1, Alessia Mammi1,2, Andrea Gaudio2

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy.

Journal of medical genetics
|June 13, 2024
PubMed
概括

针对Charcot-Marie-Tooth (CMT) 量身定制的修订后的美国医学遗传学和基因组学学院 (ACMG) 准则改善了变异分类的准确性. 这通过减少对变体的误解来确保更可靠的遗传诊断.

关键词:
诊断 诊断 诊断 诊断 诊断 诊断遗传变异是一种遗传变异.神经肌肉疾病 神经肌肉疾病

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