Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R291Q
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NPHS2

NM_014625.4:p.R291Q

Associated Papers

Novel mutation patterns in children with steroid-resistant nephrotic syndrome.

Prasad N et al.

Clinical Kidney Journal, 2024

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á et al.

Human Mutation, 2018

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

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

Lu L et al.

Renal Failure, 2015

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

Caridi G et al.

Pediatric Research, 2005

Broadening the spectrum of diseases related to podocin mutations.

Caridi G et al.

Journal of the American Society of Nephrology : Jasn, 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."