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Article

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Human genomics - 3 Jan 2026

Forbes Catherine A, Shaw Nicole C, Chen Kevin G, Hedges Mitchell, Er Teagan S, Hool Livia, Ward Michelle, Poulton Cathryn, Baynam Gareth, Lassmann Timo, Fear Vanessa S

Abstract excerpt

BACKGROUND: Patients with congenital heart disease are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease (CHD) population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD. Traditional assays for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41484984
DOI: 10.1186/s40246-025-00907-6
PMCID: PMC12866568

Genes

GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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