Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients
基于大量先天性白内障患者的数据,发现中国颅骨豆状缝发育不良家族中存在 SEC23A 基因新型复合杂合变异
期刊:BMC Medical Genomics
影响因子:2.1
doi:10.1186/s12920-023-01667-9
Qiwei Wang #, Xiaoshan Lin #, Kunbei Lai #, Yinghui Liu, Tingfeng Qin, Haowen Tan, Jing Li, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin #, Weirong Chen #