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Article

Phenotypic variability and genetic susceptibility to genomic disorders.

Human molecular genetics - 15 Oct 2010

Girirajan Santhosh, Eichler Evan E

Abstract excerpt

The duplication architecture of the human genome predisposes our species to recurrent copy number variation and disease. Emerging data suggest that this mechanism of mutation contributes to both common and rare diseases. Two features regarding this form of mutation have emerged. First, common structural polymorphisms create susceptible and protective chromosomal architectures. These structural polymorphisms occur...

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Identifiers

PMID: 20807775
DOI: 10.1093/hmg/ddq366
PMCID: PMC2953748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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