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Article

Identification of functional cis-regulatory polymorphisms in the human genome.

Human mutation - 1 May 2013

Molineris Ivan, Schiavone Davide, Rosa Fabio, Matullo Giuseppe, Poli Valeria, Provero Paolo

Abstract excerpt

Polymorphisms in regulatory DNA regions are believed to play an important role in determining phenotype, including disease, and in providing raw material for evolution. We devised a new pipeline for the systematic identification of functional variation in human regulatory sequences. The algorithm is based on the identification of SNPs leading to significant changes in both the affinity of a regulatory region for...

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PMID: 23420607
DOI: 10.1002/humu.22299

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STAT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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