Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E198A
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NPHS2

NM_014625.4:p.E198A

Associated Papers

A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.

Li S et al.

Plos One, 2024

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family.

Bai L et al.

Frontiers in Pediatrics, 2021

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

Büscher AK et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].

Fu R et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

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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."