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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Kidney international - 1 Dec 2017

Mallett Andrew J, McCarthy Hugh J, Ho Gladys, Holman Katherine, Farnsworth Elizabeth, Patel Chirag, Fletcher Jeffery T, Mallawaarachchi Amali, Quinlan Catherine, Bennetts Bruce, Alexander Stephen I

Abstract excerpt

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative...

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PMID: 28844315
DOI: 10.1016/j.kint.2017.06.013

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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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