Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.A208T
Back to variants list

NPHS2

NM_014625.4:p.A208T

Associated Papers

A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.

Mason AE et al.

Pediatric Nephrology (berlin, Germany), 2021

NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation.

Sun L et al.

Bioscience Reports, 2021

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford BD et al.

Pediatric Nephrology (berlin, Germany), 2017

The amino acid mutations of the podocin in proteinuria: a meta-analysis.

Lu L et al.

Renal Failure, 2015

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

Lipska BS et al.

Journal of Applied Genetics, 2013

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

Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

Yu Z et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.

Caridi G et al.

Pediatric Research, 2005

[Steroid-resistant nephrotic syndrome and NPHS2 gene].

Yu ZH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."