The coding exon was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on uterus, testis, kidney, spleen, liver, lung, heart, and brain extracts. (J:168060)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count