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Article

Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

European journal of human genetics : EJHG - 1 Jan 2015

Polimanti Renato, Piacentini Sara, Iorio Andrea, De Angelis Flavio, Kozlov Andrey, Novelletto Andrea, Fuciarelli Maria

Abstract excerpt

Two gene clusters are tightly linked in a narrow region of chromosome 22q11.23: the macrophage migration inhibitory factor (MIF) gene family and the glutathione S-transferase theta class. Within 120 kb in this region, two 30-kb deletions reach high frequencies in human populations. This gives rise to four haplotypic arrangements, which modulate the number of genes in both families. The variable patterns of...

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Share to Chromosomes, Human, Pair 22
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24667780
DOI: 10.1038/ejhg.2014.47
PMCID: PMC4266733

Genes

MIF

Provenance

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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