CRISPR/Cas9 technology generated a 620 bp insertion in the third exon. cDNA sequencing shows that the entire exon 3 (87 bp) is absent. (J:314284)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count