Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
大量疑似患有多种孟德尔遗传疾病的三人组中外显子组存在低水平亲本体细胞嵌合 SNV
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-020-0897-z
Tomasz Gambin #, Qian Liu #, Justyna A Karolak #, Christopher M Grochowski, Nina G Xie, Lucia R Wu, Yan Helen Yan, Ye Cao, Zeynep H Coban Akdemir, Theresa A Wilson, Shalini N Jhangiani, Ed Chen, Christine M Eng, Donna Muzny, Jennifer E Posey, Yaping Yang, David Y Zhang, Chad Shaw, Pengfei Liu, James