Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
常见的顺式调控变异会改变致病性SHROOM3变异在颅面短小症中的外显率
期刊:Genome Research
影响因子:5.5
doi:10.1101/gr.280047.124
Zhu, Hao; Zhang, Jiao; Rao, Soumya; Durbin, Matthew D; Li, Ying; Lang, Ruirui; Liu, Jiqiang; Xiao, Baichuan; Shan, Hailin; Meng, Ziqiu; Wang, Jinmo; Tang, Xiaokai; Shi, Zhenni; Cox, Liza L; Zhao, Shouqin; Ware, Stephanie M; Tan, Tiong Y; de Silva, Michelle; Gallacher, Lyndon; Liu, Ting; Mi, Jie; Zeng, Changqing; Zheng, Hou-Feng; Zhang, Qingguo; Antonarakis, Stylianos E; Cox, Timothy C; Zhang, Yong-Biao
