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Article

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

Journal of human genetics - 1 Oct 2010

Lin Xiaoping, Huo Zhaoxia, Liu Xingyuan, Zhang Yangyang, Li Li, Zhao Hong, Yan Biao, Liu Ying, Yang Yiqing, Chen Yi-Han

Abstract excerpt

GATA6 is a member of the GATA family of transcription factors, and its expression and functions overlap with those of GATA4 during heart development. Mutations in GATA4 have been related to human congenital heart diseases (CHDs) in several studies, whereas mutations in GATA6 have only recently been reported in patients with persistent truncus arteriosus. Animal experiments have revealed critical roles for GATA6...

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Source

Identifiers

PMID: 20631719
DOI: 10.1038/jhg.2010.84

Genes

GATA6
GATA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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