CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
CNV可导致常染色体隐性遗传病，伴或不伴SNV/indel。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0864-8
Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A; Eng, Christine M; Yang, Yaping; Lupski, James R; Bi, Weimin
