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Article

A novel mutation of GATA4 (K300T) associated with familial atrial septal defect.

Gene - 10 Jan 2016

Chen Jia, Qi Bingyang, Zhao Juan, Liu Wei, Duan Ranhui, Zhang Mingqiu

Abstract excerpt

The GATA-binding protein 4 gene (GATA4) encodes a zinc-finger transcription factor that plays a key role in embryogenesis and cardiac development. Variants in the GATA4 gene have been implicated in several congenital heart diseases (CHD), such as the tetralogy of Fallot (ToF), atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), and dilated cardiomyopathy (DCM). We...

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Identifiers

PMID: 26376067
DOI: 10.1016/j.gene.2015.09.021

Genes

GATA4

Variants

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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