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Article

CNVs of noncoding cis-regulatory elements in human disease.

Current opinion in genetics & development - 1 Jun 2013

Spielmann Malte, Klopocki Eva

Abstract excerpt

Genomic rearrangements and copy-number variations (CNVs) are structural aberrations of the human genome which contribute to phenotypic variation as well as human disease. By now it is well accepted that structural aberrations affecting coding regions can have pathogenic effects, however, noncoding variants have only recently come into focus as disease-associated variants. The phenotypes associated with...

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PMID: 23601627
DOI: 10.1016/j.gde.2013.02.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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