Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.M1V
Back to variants list

NPHS2

NM_014625.4:p.M1V

Associated Papers

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

Soliman NA et al.

Human Genetics, 2025

40402239 (PubMed )
Supplement: 439_2025_2752_MOESM1_ESM.docx

Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.

Thomas MM et al.

Molecular Genetics and Genomics : Mgg, 2022

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
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."