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Article

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression.

Human mutation - 1 Aug 2013

Lower Karen M, De Gobbi Marco, Hughes Jim R, Derry Christopher J, Ayyub Helena, Sloane-Stanley Jacqueline A, Vernimmen Douglas, Garrick David, Gibbons Richard J, Higgs Douglas R

Abstract excerpt

Although mutations causing monogenic disorders most frequently lie within the affected gene, sequence variation in complex disorders is more commonly found in noncoding regions. Furthermore, recent genome- wide studies have shown that common DNA sequence variants in noncoding regions are associat...

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PMID: 23616472
DOI: 10.1002/humu.22343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23616472-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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