Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G151Splc
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NPHS2

NM_014625.4:p.G151Splc

Associated Papers

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Kachmar J et al.

Kidney International Reports, 2024

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á et al.

Human Mutation, 2018

NPHS2 Mutations: A Closer Look to Latin American Countries.

Guaragna MS et al.

Biomed Research International, 2017

mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.

Benetti E et al.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2014

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

Bouchireb K et al.

Human Mutation, 2014

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A et al.

Pediatric Nephrology (berlin, Germany), 2013

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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."