Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H et al.
Nature Genetics, 2003
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