Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.G290S
Back to variants list

NPHS1

NM_004646.4:p.G290S

Associated Papers

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.

Bezdíčka M et al.

Pediatric Nephrology (berlin, Germany), 2018

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

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A et al.

Pediatric Nephrology (berlin, Germany), 2013

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

Büscher AK et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

Genetic screening in children with challenging nephrotic syndrome.

Saeed B

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0

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."