Variant: rs104894073 

    present in Gene: GATA4
    present in Chromosome: 8
    Position on Chromosome: 11750213
    Alleles of this Variant: G/A;C;T

rs104894073 in GATA4 gene and Atrial septal defect 2 PMID 12845333 2003 GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

PMID 27984724 2016 Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.

PMID 15810002 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

PMID 18055909 2007 GATA4 sequence variants in patients with congenital heart disease.

PMID 17643447 2007 Spectrum of heart disease associated with murine and human GATA4 mutation.

PMID 20347099 2010 A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

PMID 20659440 2010 A novel mutation of GATA4 in a familial atrial septal defect.

rs104894073 in GATA4 gene and VENTRICULAR SEPTAL DEFECT 1 PMID 22101736 2012 A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.

PMID 21637914 2011 A novel GATA4 mutation responsible for congenital ventricular septal defects.

PMID 18672102 2009 GATA4 mutations in 486 Chinese patients with congenital heart disease.

PMID 21110066 2010 Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.