Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.H488R
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NUP93

NM_014669.5:p.H488R

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

Novel NUP93 Gene Variant and Diffuse Mesangial Sclerosis in Steroid Resistant Nephrotic Syndrome.

Dhanorkar MA et al.

Indian Journal of Pediatrics, 2024

Clinical utility of genetic testing in Indian children with kidney diseases.

Saha A et al.

Bmc Nephrology, 2023

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