Novel loss-of-function SPAG17 homozygous variant segregated in a family with severe asthenozoospermia: upgrading gene-disease validity to strong
在患有严重弱精子症的家族中分离出一种新的SPAG17功能缺失纯合变异:将基因-疾病关联有效性提升至强关联。
期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2026.1754106
Wang, Li; Li, Jinli; Huang, Ling; Wang, Jialing; Zhou, Li; Ding, Li; Li, Jia; Zhang, Qinghua; Zhang, Junyu; Xie, Guangmei