A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene
从一名因发热引发复发性急性肝衰竭的婴儿体内发现的一种新型NBAS基因变异会破坏该基因的功能。
期刊:Human Genome Variation
影响因子:1
doi:10.1038/s41439-023-00241-0
Juhua Ji #,Mingming Yang #,JunJun Jia #,Qi Wu,Ruochen Cong,Hengxiang Cui,Baofeng Zhu,Xin Chu
