Varaico: Literature-Extracted Genetic Variants

Gene:NUP133
Variant:p.R231G
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NUP133

NM_018230.3:p.R231G

Associated Papers

Nucleoporin-associated steroid-resistant nephrotic syndrome.

Yao L et al.

Pediatric Nephrology (berlin, Germany), 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

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.

Jühlen R et al.

Febs Letters, 2023

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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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."