Functional Characterization of Two Novel Intron 4 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Variants that affect splice sites comprise 14.3% of all pathogenic variants in the gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to know the exact way in which the effect of the variant would be realized.