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Article

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.

Human mutation - 1 Dec 2018

Dixit Ritu, Narasimhan Chitra, Balekundri Vijyalakshmi I, Agrawal Damyanti, Kumar Ashok, Mohapatra Bhagyalaxmi

Abstract excerpt

Transcription factor GATA4 is known to play crucial role during heart development, regulating expression of several other key cardiogenic factors. Various GATA4 mutations are reported in familial as well as sporadic cases of congenital heart defects (CHDs). To estimate the prevalence and pathogenic potential of GATA4 variants in our CHD cohort, we have screened 285 CHD cases along with 200 controls by Sanger...

Topics

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GATA4 Transcription Factor
Genetic Association Studies
India
Models, Molecular
Prevalence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Domains

Protein Structure, Tertiary

Tetralogy of Fallot

Source

Identifiers

PMID: 30152191
DOI: 10.1002/humu.23620

Genes

GATA4
SRF
TBX5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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