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Article

Analyzing a putative enhancer of optic disc morphology.

BMC genetics - 22 Oct 2020

Babenko Vladimir, Babenko Roman, Orlov Yuri

Abstract excerpt

BACKGROUND: Genome-wide association studies have identified the CDC7-TGFBR3 intergenic region on chromosome 1 to be strongly associated with optic disc area size. The mechanism of its function remained unclear until new data on eQTL markers emerged from the Genotype-Tissue Expression project. The target region was found to contain a strong silencer of the distal (800 kb) Transcription Factor (TF) gene GFI1...

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Identifiers

PMID: 33092545
DOI: 10.1186/s12863-020-00873-z
PMCID: PMC7583307

Provenance

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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