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Article

Revealing the human mutome.

Clinical genetics - 1 Oct 2010

Chen J M, Férec C, Cooper D N

Abstract excerpt

The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database). However, for a variety of reasons, this figure is likely to represent only a small proportion of...

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PMID: 20569258
DOI: 10.1111/j.1399-0004.2010.01474.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20569258-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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