Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
从文献中筛选罕见病变异：以肌酸转运缺陷为例评估变异缺口
期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-023-09561-5
Lyons, Erica L; Watson, Daniel; Alodadi, Mohammad S; Haugabook, Sharie J; Tawa, Gregory J; Hannah-Shmouni, Fady; Porter, Forbes D; Collins, Jack R; Ottinger, Elizabeth A; Mudunuri, Uma S
