When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations ( p.W290L , p.C615R , p.G821S , and p.G821R ) in five of them .
O O O O O O O O B-OrganismTaxon O B-DiseaseOrPhenotypicFeature O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O O O O O B-SequenceVariant O B-SequenceVariant O B-SequenceVariant O O B-SequenceVariant O O O O O O