Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.
MAN1B1 的双等位基因功能丧失变异导致 Rafiq 综合征和发育迟缓
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26167820
Zang Liyu, Han Yaoling, Zhang Qiumeng, Luo Si, Hu Zhengmao, Xia Kun, Ahmed Ashfaque, Tian Qi
