Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G42R
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NPHS2

NM_014625.4:p.G42R

Associated Papers

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.

Asharam K et al.

Kidney International Reports, 2018

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

Lu L et al.

Renal Failure, 2015

NPHS2 variation in sporadic focal segmental glomerulosclerosis.

McKenzie LM et al.

Journal of the American Society of Nephrology : Jasn, 2007

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

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."