Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.L513Splc
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NUP93

NM_014669.5:p.L513Splc

Associated Papers

Exploring genotype-phenotype correlation in nucleoporin nephropathy.

Pei Y et al.

Pediatric Research, 2025

Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.

Han Y et al.

Italian Journal of Pediatrics, 2024

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

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

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.

Bezdíčka M et al.

Pediatric Nephrology (berlin, Germany), 2018

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

Braun DA et al.

Nature Genetics, 2016

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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."