Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.K243*
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NUP93

NM_014669.5:p.K243*

Associated Papers

In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.

Ichikawa Y et al.

Pediatric Nephrology (berlin, Germany), 2024

39093455 (PubMed )
Supplement: 467_2024_6468_MOESM5_ESM.xlsx › Sheet1

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

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

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.

Rossanti R et al.

Journal of Human Genetics, 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."