Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R291_M292Splc
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NPHS2

NM_014625.4:p.R291_M292Splc

Associated Papers

Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.

Joshi BB et al.

Gene, 2017

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

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Megremis S et al.

Genetic Testing and Molecular Biomarkers, 2009

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.

Tonna S et al.

Pediatric Nephrology (berlin, Germany), 2008

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.

Di Duca M et al.

Kidney International, 2006

Discordant evolution of nephrotic syndrome in mono- and dizygotic twins.

Ghiggeri GM et al.

Pediatric Nephrology (berlin, Germany), 2006

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Franceschini N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

Dusel JA et al.

Kidney International, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."