Endonuclease-induced mutation results in a 4-base pair deletion (TCAT) of exon 9 encoding the PR/SET domain that leads to a frameshift. (J:199214)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count