CRISPR/Cas9-mediated genome editing technology was used to generate a 7bp deletion in exon 2. The mutation results in a shift in the reading frame, resulting in a truncation of the encoded protein. (J:266978)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count