CRISPR/Cas9技术产生了一个位于2173位的C到T变异,导致了氨基酸725(R725)的arginine变为X(R725X)。这种变异与在视网膜发育异常(cryptophthalmos)患者中观察到的R736X(c.2206C>T)变异相匹配。(来源:J:279933)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count