Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
SART3 变异会导致剪接体病,其特征是睾丸发育失败和神经元缺陷
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-023-39040-0
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B Schittenhelm, Cheng Huang, Gorjana Robevska,