Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
THOC2基因变异会导致严重的神经认知和生长障碍，THOC2是核mRNA输出机制的关键组成部分。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23557
Kumar, Raman; Gardner, Alison; Homan, Claire C; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E; Mihalic Mosher, Theresa; Gillespie, Meredith K; Brady, Lauren; Tarnopolsky, Mark; Madrigal, Irene; Eiris, Jesús; Domènech Salgado, Laura; Rabionet, Raquel; Strom, Tim M; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E; Field, Michael; Gecz, Jozef
