A neo cassette replaced exon 5. Western blot analysis confirmed the absence of protein expression in the testis, liver, kidney, intestine, spleen, lung, brain and skin. (J:192646)
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