Genomic PCR demonstrated the absence of exon 3. This is an in frame deletion within the N-terminal LIVBP-like domain and leads to a 95 amino acid deletion. (J:84411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count