Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G34E
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NPHS2

NM_014625.4:p.G34E

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

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

Bouchireb K et al.

Human Mutation, 2014

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

NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.

Maruyama K et al.

Pediatric Nephrology (berlin, Germany), 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."