NPHP1 is the most prevalent genetic cause of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations in three cases from two non-consanguineous pedigrees were indicat
(*) Despite the clinically suspected mosaic condition, only blood derived DNA was available for the analysis. This might be a reason for the negative test results. (**) The recently described causativ
Additional file 3: mave_g2p.csv. This file contains information about the number of mapped genes in the Genomics 2 Proteins Portal and their corresponding counts of single and double mutations
