CRISPR/Cas9 technology generated a 180 bp deletion in exon 1 near the N-terminus that is essential for its interaction with CLIC5, resulting in a change of amino acid sequence after residue 35, a loss of 60 amino acids, and remaining in frame. (J:314281)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count