CRISPR-targeting of exon 2 deleted 104 bp comprising part of intron 1 and exon 2. Western blot analysis confirmed the absence of protein expression in retinal pigmented epithelial. (J:242244)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count