SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility
Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen, Cynthia Casson Morton
This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.
The American Journal of Human Genetics · Dec 19, 2019Peer-reviewedGenetics