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Article

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Human mutation - 1 Mar 2007

Alharbi Khalid K, Spanakis Emmanuel, Tan Karen, Smith Matt J, Aldahmesh Mohammed A, O'Dell Sandra D, Sayer Avan Aihie, Lawlor Debbie A, Ebrahim Shah, Davey Smith George, O'Rahilly Stephen, Farooqi Sadaf, Cooper Cyrus, Phillips David I W, Day Ian N M

Abstract excerpt

Identification of unknown mutations has remained laborious, expensive, and only viable for studies of selected cases. Population-based "reference ranges" of rarer sequence diversity are not available. However, the research and diagnostic interpretation of sequence variants depends on such informa...

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Identifiers

PMID: 17072869
DOI: 10.1002/humu.20404

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17072869-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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