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Article

Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes.

Trends in genetics : TIG - 1 Jul 2020

van der Lee Robin, Correard Solenne, Wasserman Wyeth W

Abstract excerpt

Whole-genome sequencing is accelerating identification of noncoding variants that disrupt gene expression, although reports of such regulatory variants implicated in disease remain rare. A notable subset of described variants affect transcription factor (TF) genes and other master regulators in cis through dosage effects. From the literature, we compiled 46 regulatory variants linked to 40 TF genes implicated in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32451166
DOI: 10.1016/j.tig.2020.04.006

Provenance

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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