CRISPR/Cas9 technology generated an out-of-frame 113-bp deletion in exon 1, resulting in a premature stop codon in exon 2. (J:342579)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count