Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.L695S
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NUP93

NM_014669.5:p.L695S

Associated Papers

Nucleoporin-associated steroid-resistant nephrotic syndrome.

Yao L et al.

Pediatric Nephrology (berlin, Germany), 2025

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.

Jühlen R et al.

Febs Letters, 2023

A rare cause of steroid-resistant nephrotic syndrome - a case report.

Kuran P et al.

Central-european Journal of Immunology, 2023

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Bierzynska A et al.

Pediatric Nephrology (berlin, Germany), 2022

Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.

Cason RK et al.

Frontiers in Pediatrics, 2022

Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.

Zhao B et al.

Medicine, 2021

In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis.

Hashimoto T et al.

Kidney International Reports, 2019

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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."