Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
错义突变
生物
移码突变
人口
外显子组测序
遗传学
基因
突变
医学
环境卫生
作者
Caro-Lyne DesRoches,Jaina Patel,Peixiang Wang,Berge A. Minassian,Christian R. Marshall,Gajja S. Salomons,Saadet Mercimek‐Mahmutoglu