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
Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.
Wang Q et al.
Clinical Genetics, 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
NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.
Rogg M et al.
Cells, 2022
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