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Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Human mutation - 1 Jul 2014

Savige Judy, Dagher Hayat, Povey Sue

Abstract excerpt

This study examined whether gene-specific DNA variant databases for inherited diseases of the kidney fulfilled the Human Variome Project recommendations of being complete, accurate, clinically relevant and freely available. A recent review identified 60 inherited renal diseases caused by mutations in 132 genes. The disease name, MIM number, gene name, together with "mutation" or "database," were used to identify...

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PMID: 24826923
DOI: 10.1002/humu.22588

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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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