CRISPR/Cas9通过设计的sgRNAs靶向exons 2和3,产生了插入(AC)和缺失(CGTA)的变异。这导致了exon 2中valine(99)密码子的框架移位突变(GTA)和一个在60个核苷酸/20个密码子位置的早停终止密码子(Val99Leufs*20)。参考文献:J:322160
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count