Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.F185delFs
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NPHS2

NM_014625.4:p.F185delFs

Associated Papers

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

Caridi G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2009

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

Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

Yu Z et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005

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

Caridi G et al.

Pediatric Research, 2005

[Steroid-resistant nephrotic syndrome and NPHS2 gene].

Yu ZH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

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

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."