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Article

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.

Pediatric research - 1 Aug 2014

Bonachea Elizabeth M, Chang Sheng-Wei, Zender Gloria, LaHaye Stephanie, Fitzgerald-Butt Sara, McBride Kim L, Garg Vidu

Abstract excerpt

BACKGROUND: Bicuspid aortic valve (BAV) is the most common type of congenital heart disease (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion, with right-left (R-L) cusp fusion being associated with additional CHD, and right-noncoronary cusp (R-NC) fusion being associated with aortic valve dysfunction. Loss of murine Gata5, which encodes a cardiac transcription factor, results in a...

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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: 24796370
DOI: 10.1038/pr.2014.67
PMCID: PMC5717758

Genes

GATA5

Variants

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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