Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.Q39*
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NPHS2

NM_014625.4:p.Q39*

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

A no-nonsense approach to hereditary kidney disease.

Tokhmafshan F et al.

Pediatric Nephrology (berlin, Germany), 2020

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

Lu L et al.

Renal Failure, 2015

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

Bouchireb K et al.

Human Mutation, 2014

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."