Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.E341insFs
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NUP107

NM_020401.4:p.E341insFs

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

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

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA et al.

The Journal of Clinical Investigation, 2018

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