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Adapting ACMG/AMP Sequence Variant Classification Guidelines for Single-Gene Copy Number Variants

Tracy Brandt,Laura M. Sack,Dolores Arjona,Duanjun Tan,Hui Mei,Hong Cui,Hua Gao,Lora J. H. Bean,Arunkanth Ankala,Daniela Del Gaudio,Amy Knight Johnson,Lisa M. Vincent,Caitlin Reavey, Amy Lai,Gabriele Richard,Jeanne M. Meck

Genetics in Medicine（2019）

引用 77|浏览39
关键词
copy number variant (CNV),variant interpretation,variant classification guidelines,PVS1,ACMG/AMP criteria
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