Varaico: Literature-Extracted Genetic Variants

Gene:NUP205
Variant:p.F1995S
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NUP205

NM_015135.3:p.F1995S

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

Non-classical functions of nuclear pore proteins in ciliopathy.

Chen Y et al.

Frontiers in Molecular Biosciences, 2023

Architecture of the linker-scaffold in the nuclear pore.

Petrovic S et al.

Science (new York, N.y.), 2022

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."