Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L169P
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NPHS2

NM_014625.4:p.L169P

Associated Papers

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A et al.

Kidney International Reports, 2024

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

Kachmar J et al.

Kidney International Reports, 2024

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

Lu L et al.

Renal Failure, 2015

Gene mutations and steroid-resistant nephrotic syndrome.

Mahdavi-Mazdeh M

Iranian Journal of Kidney Diseases, 2013

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Lipska BS et al.

Kidney International, 2013

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 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

NPHS2 mutations in children with steroid-resistant nephrotic syndrome.

Otukesh H et al.

Iranian Journal of Kidney Diseases, 2009

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

Berdeli A et al.

Pediatric Nephrology (berlin, Germany), 2007

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

Broadening the spectrum of diseases related to podocin mutations.

Caridi G et al.

Journal of the American Society of Nephrology : Jasn, 2003

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Caridi G et al.

Journal of the American Society of Nephrology : Jasn, 2001

NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis.

Baylarov R et al.

Bratislavske Lekarske Listy, 0

NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.

Baylarov R et al.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0

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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."