A neo cassette replaced exon 1. RT-PCR confirmed the absence of transcript expression in lung, stomach, small intestine, colon and adipose tissue (epididymal, subcutaneous, peri-renal and brown). (J:182599)
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