Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.I344delFs
Back to variants list

NPHS1

NM_004646.4:p.I344delFs

Associated Papers

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

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

28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

Lipska BS et al.

Journal of Applied Genetics, 2013

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Lipska BS et al.

Kidney International, 2013

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."