Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.W378*
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NPHS1

NM_004646.4:p.W378*

Associated Papers

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

Al Riyami MS et al.

Molecular Genetics & Genomic Medicine, 2023

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."