All 10 exons were deleted by CRISPR/Cas9 genome editing technology. The mutation is a 59-kb deletion, including all gene exons and the proximal promoter. (J:285743)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count