Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.K442fs
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NUP93

NM_014669.5:p.K442fs

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

Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.

Hejazian SM et al.

Expert Review of Clinical Pharmacology, 2020

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

Hashimoto T et al.

Kidney International Reports, 2019

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."