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The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2015

Savige Judy, Dalgleish Raymond, Cotton Richard Gh, den Dunnen Johan T, Macrae Finlay, Povey Sue

Abstract excerpt

A recent review identified 60 common inherited renal diseases caused by DNA variants in 132 different genes. These diseases can be diagnosed with DNA sequencing, but each gene probably also has a thousand normal variants. Many more normal variants have been characterised by individual laboratories than are reported in the literature or found in publicly accessible collections. At present, testing laboratories...

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PMID: 25384529
DOI: 10.1007/s00467-014-2994-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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