Associated Papers
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Ben Moshe Y et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 143.91
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
Santín S et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Select a paper to view details