Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.E360_E361delFs
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NUP107

NM_020401.4:p.E360_E361delFs

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

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 2020

NUP107 mutations in children with steroid-resistant nephrotic syndrome.

Park E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Miyake N et al.

American Journal of Human Genetics, 2015

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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."