Varaico: Literature-Extracted Genetic Variants

Gene:NUP160
Variant:p.L1219W
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NUP160

NM_015231.3:p.L1219W

Associated Papers

Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation.

Yang H et al.

Pediatric Nephrology (berlin, Germany), 2025

Nucleoporin-associated steroid-resistant nephrotic syndrome.

Yao L et al.

Pediatric Nephrology (berlin, Germany), 2025

Novel NUP160 mutations related to simultaneous congenital nephropathy and ovarian insufficiency.

Liu Y et al.

Clinical Kidney Journal, 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

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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."