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Article

Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.

Clinical nephrology - 1 Oct 2020

de Almeida Rafael, da Silva William Cardoso, Garbin Henrique Iahnke, Itaquy Thiago Pereira, Dos Santos Pereira Fernanda, Garcia Clotilde Druck, Keitel Elizete, Sales Luiz Vianna Fernanda, Veronese Francisco Veríssimo

Abstract excerpt

BACKGROUND: NPHS2 gene variants are associated with focal segmental glomerulosclerosis (FSGS) and steroid-resistant nephrotic syndrome (SRNS). In this study, the prevalence of NPHS2 variants p.R229Q, p.A242V, and p.R138Q was investigated in patients with familial or sporadic FSGS. MATERIALS AND METHODS: The sample consisted of 40 children and 70 adults diagnosed with FSGS confirmed by renal biopsy. Clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32691731
DOI: 10.5414/CN110178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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