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评估ClinGen变异策划专家小组对PVS1代码的应用.

Xiaoyan Wang1, Haibo Li2, Haiyan Luo3

  • 1Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, China.

European journal of medical genetics
|January 10, 2024
PubMed
概括

变异选专家小组 (VCEPs) 通常遵循功能丧失 (LOF) 变异的指导方针,但基因特异性因素会导致不一致. 标准化LOF变体解释对于遗传数据分析至关重要.

关键词:
在ACMG/AMP中使用.分类 分类 分类 分类.在PVS1中使用PVS1.这是VCEPVCEP.变种 变种 变种 变种

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