在exon 6的第244位,作为丝氨酸的密码子(Asp的GAC)被替换成了甘氨酸(GGC),这通过CRISPR/Cas9技术用sgRNA和ssODN模板实现,变异等同于人类中与囊泡积聚性肌病(VAM)相关的同位点突变(p.D244G)。来源:(J:341814)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count