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Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes

Qingwei Qi,Yulin Jiang,Xiya Zhou,Hua Meng,Na Hao,Jiazhen Chang,Junjie Bai,Chunli Wang,Mingming Wang,Jiangshan Guo,Yunshu Ouyang,Zhonghui Xu,Mengsu Xiao,Victor Wei Zhang,Juntao Liu

MOLECULAR GENETICS AND METABOLISM（2021）

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关键词
ultrasound anomalies,single nucleotide variations,copy number,diagnostic yield
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