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Article

Identification of GATA6 sequence variants in patients with congenital heart defects.

Pediatric research - 1 Oct 2010

Maitra Meenakshi, Koenig Sara N, Srivastava Deepak, Garg Vidu

Abstract excerpt

Although the etiology for the majority of congenital heart disease (CHD) remains poorly understood, the known genetic causes are often the result of mutations in cardiac developmental genes. GATA6 encodes for a cardiac transcription factor, which is broadly expressed in the developing heart and is critical for normal cardiac morphogenesis, making it a candidate gene for congenital heart defects in humans. The...

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Identifiers

PMID: 20581743
DOI: 10.1203/PDR.0b013e3181ed17e4
PMCID: PMC2940936

Genes

GATA6

Variants

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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