A C to T missense mutation causes a proline to serine change at conserved codon 269 in the second epidermal growth factor (EGF)-like repeat. (J:63716, J:67728)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count