大部分内容来源: 1.Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. 2.王秋菊, 沈亦平, 邬玲仟, 等. 遗传变异分类标准与指南. 中国科学: 生命科学, 2017, 47: 668–688 |
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