A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). - Leggatt, Gary; Cheng, Guo; Narain, Sumit; Briseño-Roa, Luis; Annereau, Jean-Philippe; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; et al. (Scientific Reports, 2023)