Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function
典型的软骨发育不全继发于FGFR3的一种独特的插入变异，体外实验证实了该变异对FGFR3功能的影响。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62043
Meyer, April N; Modaff, Peggy; Wang, Clark G; Wohler, Elizabeth; Sobreira, Nara L; Donoghue, Daniel J; Pauli, Richard M
