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中国出生缺陷遗传学研究的回顾与展望
孙丽雅1,3(),邢清和2,3,贺林1,3()
Retrospect and prospect of the genetic research on birth defects
in China
Liya Sun1,3(), Qinghe Xing2,3, Lin He1,3()

图2. 全外显子组基因检测在部分儿童遗传病中的诊断率

Fig. 2. Available diagnostic rates based on whole-exome sequencing in classes of paediatric genomic diseases