A neo cassette was inserted into exon 9. This insertion leads to a disruption at the proline-rich FH1 domain. The absence of protein was confirmed by western blot analysis of embryonic fibroblasts extracts. (J:149484)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count