Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.Y629C
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NUP93

NM_014669.5:p.Y629C

Associated Papers

Exploring genotype-phenotype correlation in nucleoporin nephropathy.

Pei Y et al.

Pediatric Research, 2025

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

Non-classical functions of nuclear pore proteins in ciliopathy.

Chen Y et al.

Frontiers in Molecular Biosciences, 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

Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.

Nataraj NB et al.

Cell Reports, 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

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

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G et al.

Cerebellum (london, England), 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."