Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.W289*
Back to variants list

NPHS1

NM_004646.4:p.W289*

Associated Papers

Congenital and infantile nephrotic syndrome: genotype-phenotype associations.

Islam MS et al.

Pediatric Research, 2025

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.

Cil O et al.

Pediatric Nephrology (berlin, Germany), 2015

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Schoeb DS et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."