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
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
30279426 (PubMed )
Supplement: 41598_2018_32876_MOESM1_ESM.pdf
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
Löwik M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L et al.
Human Molecular Genetics, 2001
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U et al.
American Journal of Human Genetics, 1999
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