Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G151Splc
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NPHS2

NM_014625.4:p.G151Splc

Associated Papers

Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

Shojaei A et al.

Iranian Journal of Kidney Diseases, 2019

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

[The correlation between NPHS2 polymorphism and IgA nephropathy in northern Chinese patients].

Yu L et al.

Zhonghua Nei Ke Za Zhi, 2011

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

Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy.

Zhu L et al.

Nephrology (carlton, Vic.), 2009

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

Megremis S et al.

Genetic Testing and Molecular Biomarkers, 2009

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

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

[Steroid-resistant nephrotic syndrome and NPHS2 gene].

Yu ZH et al.

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

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

Aucella F et al.

Nephron. Clinical Practice, 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."