Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E90D
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NPHS2

NM_014625.4:p.E90D

Associated Papers

Establishing a nanoluciferase-based assay as a high-throughput screening platform for therapeutics in congenital nephrotic syndrome.

Tsuhako H et al.

Journal of Pharmacological Sciences, 2025

Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.

Liu XL et al.

Journal of the American Society of Nephrology : Jasn, 2004

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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."