Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia
病例报告:微基因检测揭示了一种新的DNAAF6内含子变异是原发性纤毛运动障碍的关键病因
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1692658
Long, Yupeng; Li, Huixian; Yu, Haoyue; Yi, Qian; Meng, Xiong; Wang, Xi; Ren, Qinqin; Ding, Dongyan; Li, Haidong; Zhang, Fenglan; Qiu, Hao; Yang, Xuemei