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Article

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Journal of medical genetics - 1 Dec 2017

Sen Ethan S, Dean Philip, Yarram-Smith Laura, Bierzynska Agnieszka, Woodward Geoff, Buxton Chris, Dennis Gemma, Welsh Gavin I, Williams Maggie, Saleem Moin A

Abstract excerpt

BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28780565
DOI: 10.1136/jmedgenet-2017-104811
PMCID: PMC5740557

Genes

NPHS1
NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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