Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.Q129*
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NPHS2

NM_014625.4:p.Q129*

Associated Papers

Congenital and infantile nephrotic syndrome: genotype-phenotype associations.

Islam MS et al.

Pediatric Research, 2025

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

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

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.

Al-Hamed M et al.

Ndt Plus, 2010

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

Schultheiss M et al.

Pediatric Nephrology (berlin, Germany), 2004

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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."