CRISPR/Cas9 genome editing technology was used to generate a 70bp insertion in exon 5 that introduces in frame stop codons and is predicted to result in a truncated protein. (J:291848)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count