CRISPR/Cas9 technology targeting exon 48 introduced an out of frame deletion of 28 bp leading to a premature stop codon 158 amino acids after the deletion that terminates protein translation at amino acid 1405. (J:326524)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count