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Article

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

Human molecular genetics - 15 Jul 2008

Fahmi Saleemah, Yang Chendong, Esmail Sophie, Hobbs Helen H, Cohen Jonathan C

Abstract excerpt

Resequencing genes in individuals at extremes of the population distribution constitutes a powerful and efficient strategy to identify sequence variants associated with complex traits. An excess of sequence variants at one extreme relative to the other that is not due to chance or to population stratification constitutes evidence for genetic association and implies the presence of functionally significant...

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Identifiers

PMID: 18413323
DOI: 10.1093/hmg/ddn108
PMCID: PMC2441721

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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