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Article

Relative impact of nucleotide and copy number variation on gene expression phenotypes.

Science (New York, N.Y.) - 9 Feb 2007

Stranger Barbara E, Forrest Matthew S, Dunning Mark, Ingle Catherine E, Beazley Claude, Thorne Natalie, Redon Richard, Bird Christine P, de Grassi Anna, Lee Charles, Tyler-Smith Chris, Carter Nigel, Scherer Stephen W, Tavaré Simon, Deloukas Panagiotis, Hurles Matthew E, Dermitzakis Emmanouil T

Abstract excerpt

Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy nu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17289997
DOI: 10.1126/science.1136678
PMCID: PMC2665772

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17289997-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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