A 5-bp deletion mutation in exon 3 was created by CRISPR/Cas9 genome editing technology. This causes a frameshift and introduces a premature stop codon. (J:280224)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count