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Article

Non-coding genetic variants in human disease.

Human molecular genetics - 15 Oct 2015

Zhang Feng, Lupski James R

Abstract excerpt

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants (CNVs), in the non-coding regions of the human genome can play an important role in human traits and complex diseases. Most of the genome-wide association study (GWAS) signals map to non-coding regions and potentially point to non-coding variants, whereas their functional interpretation is challenging. In this review, we...

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Identifiers

PMID: 26152199
DOI: 10.1093/hmg/ddv259
PMCID: PMC4572001

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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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