Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.Y192C
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NUP93

NM_014669.5:p.Y192C

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

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

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji I et al.

Bmc Nephrology, 2019

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N et al.

Journal of the American Society of Nephrology : Jasn, 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."