Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.R462W
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NPHS1

NM_004646.4:p.R462W

Associated Papers

Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).

Lu L et al.

Clinical Genetics, 2022

35064937 (PubMed )
Supplement: supplement_1.docx

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan W et al.

Pediatric Nephrology (berlin, Germany), 2018

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F et al.

Pediatric Nephrology (berlin, Germany), 2017

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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."