Exons 5 through 11 were replaced with a neo cassette. This deletion splices exon 4 to exon 12 out of frame giving rise to a premature stop codon. (J:152173)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count