CRISPR/Cas9 technology generated a 1 bp insertion in exon 2 that results in a frame shift and a premature stop codon after the 51st amino acid residue of the N-terminal domain. (J:271244)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count