Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R168S
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NPHS2

NM_014625.4:p.R168S

Associated Papers

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

Kachmar J et al.

Kidney International Reports, 2024

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K et al.

Human Mutation, 2014

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.

Weber S et al.

Transplantation, 2005

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

Caridi G et al.

Pediatric Research, 2005

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

Zhang SY 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

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

Roselli S et al.

Traffic (copenhagen, Denmark), 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."