Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G296S
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GATA6

NM_005257.6:p.G296S

Associated Papers

Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.

Maddhesiya J et al.

Current Cardiology Reports, 2024

The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation.

Sakamoto T et al.

Nature Communications, 2022

35418170 (PubMed )
Supplement: 41467_2022_29733_MOESM6_ESM.pdf

GATA transcription factors in congenital heart defects: a commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

Kodo K et al.

Journal of Human Genetics, 2010

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

Bouchard MF et al.

Journal of Molecular Endocrinology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."