Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R3G
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NPHS2

NM_014625.4:p.R3G

Associated Papers

In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants.

Mulukala SK et al.

Iubmb Life, 2016

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

Berdeli A et al.

Pediatric Nephrology (berlin, Germany), 2007

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Caridi G et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004

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

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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."