CRISPR/Cas9 genome editing technology was used to generate a 3099-bp deletion encompassing exons 1-14, resulting in a frame-shift mutation and early termination of the encoded protein. (J:335000)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count