CRISPR/cas9 genome editing is used to delete exon 3 (aa 39-96). Deletion of exon 3 is predicted to cause a change of amino acid sequence after residue 38 and an early truncation 46 amino acids later. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count