Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)
新型PHEX基因位点特异性数据库:对大量与X连锁低磷血症(XLH)相关的变异进行全面表征
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.24296
Sarafrazi, Soodabeh; Daugherty, Sean C; Miller, Nicole; Boada, Patrick; Carpenter, Thomas O; Chunn, Lauren; Dill, Kariena; Econs, Michael J; Eisenbeis, Scott; Imel, Erik A; Johnson, Britt; Kiel, Mark J; Krolczyk, Stan; Ramesan, Prameela; Truty, Rebecca; Sabbagh, Yves