Fig. 1
From: Novel GANAB variants associated with polycystic liver disease
Flow chart of the MIP analysis. Of the 625 polycystic liver patients included, we identified 32 patients with 38 GANAB variants. 13 of these variants were validated using Sanger sequencing. The non-validated variants were excluded from further analysis. Of the validated variants, 7 were excluded because these were non-segregating, not predicted to be deleterious by in silico prediction tools, or no family members were available for further co-segregation analysis. 6 variants were included as definitive pathogenic GANAB variants