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Article

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.

Nature reviews. Genetics - 1 Aug 2007

Beckmann Jacques S, Estivill Xavier, Antonarakis Stylianos E

Abstract excerpt

A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the phenotypic expression of aneuploidies and sporadic traits, and might represent...

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PMID: 17637735
DOI: 10.1038/nrg2149

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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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