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Article

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

Journal of nephrology - 1 Jun 2024

Beal Felicity, Forrester Natalie, Watson Elizabeth, Williams Maggie, Buckton Andrew, Marlais Matko, Maxted Andrew, Woolf Adrian S, Saleem Moin A, Platt Caroline

Abstract excerpt

BACKGROUND: Kidney failure in young people is often unexplained and a significant proportion will have an underlying genetic diagnosis. National Health Service England pioneered a comprehensive genomic testing service for such circumstances accessible to clinicians working outside of genetics. This is the first review of patients using this novel service since October 2021, following its introduction into...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38837003
DOI: 10.1007/s40620-024-01964-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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