Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.N199insFs
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NPHS2

NM_014625.4:p.N199insFs

Associated Papers

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

Soliman NA et al.

Human Genetics, 2025

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.

Jankowski M et al.

Human Mutation, 2024

Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.

Thomas MM et al.

Molecular Genetics and Genomics : Mgg, 2022

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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."