CRISPR/Cas9 technology removed 312 bp, which includes part of exon 18 and the following intron. This deletion introduces a premature termination codon and is expected to produce a truncated product. (J:240387)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count