CRISPR/Cas9 technology generated a 62 bp deletion in exon 5. This is predicted to result in a premature codon resulting in nonsense-mediated decay. (J:343044)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count