CRISPR/Cas9 technology generated a 1 bp insertion in exon 2 resulting in a frame shift mutation that leads to premature translational termination damaging the key T-box domain. (J:271649)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count