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Article

Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects.

World journal of pediatrics : WJP - 1 Nov 2014

Shan Ji-Ping, Wang Xiao-Li, Qiao Yuan-Gang, Wan Yan Hong-Xin, Huang Wen-Hui, Pang Shu-Chao, Yan Bo

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is the most common human birth defect. Genetic causes for CHD remain largely unknown. GATA transcription factor 5 (GATA 5) is an essential regulator for the heart development. Mutations in the GATA5 gene have been reported in patients with a variety of CHD. Since misregulation of gene expression have been associated with human diseases, we speculated that changed levels...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25515806
DOI: 10.1007/s12519-014-0511-z

Genes

GATA5

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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