Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G92C
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NPHS2

NM_014625.4:p.G92C

Associated Papers

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Kachmar J et al.

Kidney International Reports, 2024

Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.

Dorison A et al.

Journal of the American Society of Nephrology : Jasn, 2023

NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians.

Jaffer A et al.

Nephrology (carlton, Vic.), 2014

Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach.

Tabassum A et al.

Interdisciplinary Sciences, Computational Life Sciences, 2014

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

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

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.

Nishibori Y et al.

Kidney International, 2004

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

Weber S et al.

Kidney International, 2004

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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."