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Article

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2013

Kerti Andrea, Csohány Rózsa, Wagner László, Jávorszky Eszter, Maka Erika, Tory Kálmán

Abstract excerpt

BACKGROUND: The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. While it has been reported in unaffected controls, it is enriched in patients with SRNS, suggesting pathogenicity. CASE-DIAGNOSIS/TREATMENT: A family with three member...

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Share to Glomerulosclerosis, Focal Segmental
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23800802
DOI: 10.1007/s00467-013-2542-4

Genes

NPHS2
PAX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23800802-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.PMID 23800802Read ↗

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