Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans
TBC1D20 的功能丧失突变导致盲不育小鼠患上白内障和男性不育症，并导致人类患上瓦博格微综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.10.011
Ryan P Liegel, Mark T Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M H Abdel-Salam, Paulien A Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Loren
