Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.E121_L122del2
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NPHS1

NM_004646.4:p.E121_L122del2

Associated Papers

Congenital and infantile nephrotic syndrome: genotype-phenotype associations.

Islam MS et al.

Pediatric Research, 2025

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C et al.

Kidney International Reports, 2025

39990878 (PubMed )
Supplement: mmc1.pdf

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

Lemberg K et al.

Scientific Reports, 2024

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

Wong W et al.

Pediatric Nephrology (berlin, Germany), 2013

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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."