Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.R460Q
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NUP85

NM_024844.5:p.R460Q

Associated Papers

A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85-Associated Steroid-Resistant Nephrotic Syndrome.

Kurt-Şükür ED et al.

Clinical Genetics, 2025

In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.

Ichikawa Y et al.

Pediatric Nephrology (berlin, Germany), 2024

39093455 (PubMed )
Supplement: 467_2024_6468_MOESM5_ESM.xlsx › Sheet1
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