Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
未表现出症状的 AHI1 截短表明严重孟德尔遗传病基因中存在局部功能丧失耐受性。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddv022
Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J