Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E178_I179Splc
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NPHS2

NM_014625.4:p.E178_I179Splc

Associated Papers

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

Kachmar J et al.

Kidney International Reports, 2024

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

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

Mason AE et al.

Pediatric Nephrology (berlin, Germany), 2021

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

Bouchireb K et al.

Human Mutation, 2014

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Benoit G et al.

Pediatric Nephrology (berlin, Germany), 2010

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

Caridi G et al.

Transplantation Proceedings, 2006

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

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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."