Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R138P
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NPHS2

NM_014625.4:p.R138P

Associated Papers

A Rare NPHS2 Mutation (E130K) in Hereditary Steroid-Resistant Nephrotic Syndrome: A Case Report.

Mujahed RH et al.

Case Reports in Nephrology, 2026

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Structural basis for membrane microdomain formation by a human Stomatin complex.

Stoner J et al.

Nature Communications, 2025

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Bullich G et al.

European Journal of Human Genetics : Ejhg, 2015

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH et al.

Journal of Human Genetics, 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."