Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.Q1148*
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NPHS1

NM_004646.4:p.Q1148*

Associated Papers

Structural Basis of Highly Specific Interaction between Nephrin and MAGI1 in Slit Diaphragm Assembly and Signaling.

Weng Z et al.

Journal of the American Society of Nephrology : Jasn, 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

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Kari JA et al.

Pediatric Nephrology (berlin, Germany), 2014

Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

Wong W et al.

Pediatric Nephrology (berlin, Germany), 2013

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

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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."