Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.V268G
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NPHS2

NM_014625.4:p.V268G

Associated Papers

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

Lu L et al.

Renal Failure, 2015

Eye involvement in children with primary focal segmental glomerulosclerosis.

Ozaltin F et al.

Pediatric Nephrology (berlin, Germany), 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

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."