Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S211T
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NPHS2

NM_014625.4:p.S211T

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

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

Lu L et al.

Renal Failure, 2015

Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

Carrasco-Miranda JS et al.

Genetics and Molecular Research : Gmr, 2013

Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation.

Furue T et al.

Pediatric Transplantation, 2008

Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].

Caridi G et al.

Transplantation Proceedings, 2006

New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis.

Vincenti F et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2005

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

Caridi G et al.

Pediatric Research, 2005

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Ruf RG et al.

Journal of the American Society of Nephrology : Jasn, 2004

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood.

Caridi G et al.

Kidney International, 2003

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.

Bertelli R et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003

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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."