使用sgRNA(靶向GGGATATCTGTAACACTCC)和ssODN模板(CACTGTCCTTCAGGGTCACCAGGGGTACAAAGTGCTGGCTGTCATAGCCTAGGACGATGGGATATCTGTAATACTCCTGAGCAGGCCAGTGAAGAGGCAGATAAATCCCACCCACTTTCAAAGGAGCAAAATTGGAACCAGATTCCAAAC),通过CRISPR/Cas9技术,第243位 cysteine(密码子TGT)被替换为tyrosine(密码子TAT),导致c.728G>A的变异,p.C243Y。(来源:J:283545)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count