Exon 2通过CRISPR/Cas9技术用一个sgRNA针对TACGCCCTCGTCTTCACGTTCGG,导致了1个碱基的缺失(位置GRCm39:chr9:g.119881268delA),这产生了一个移位和一个早停密码子(p.F45Sfs*28)。来源:J:340910
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count