Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R224C
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NPHS2

NM_014625.4:p.R224C

Associated Papers

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

Bouchireb K et al.

Human Mutation, 2014

Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy.

Zhu L et al.

Nephrology (carlton, Vic.), 2009

The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.

Harendza S et al.

Cellular & Molecular Biology Letters, 2009

[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].

Fu R et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Franceschini N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

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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."