Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A33A
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GATA4

NM_001308093.3:p.A33A

Associated Papers

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.

Bolunduț AC et al.

Children (basel, Switzerland), 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.

Behiry EG et al.

Molecular Genetics & Genomic Medicine, 2019

[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].

Chen LT et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

GATA4 Loss-of-Function Mutation and the Congenitally Bicuspid Aortic Valve.

Li RG et al.

The American Journal of Cardiology, 2018

Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.

Zhang Y et al.

Medicine, 2017

Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.

Liu Y et al.

Pediatric Cardiology, 2017

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Butler TL et al.

Genetic Testing and Molecular Biomarkers, 2010

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

Peng T et al.

Genetica, 2010

[Novel GATA4 mutations identified in patients with congenital atrial septal defects].

Liu XY et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

GATA4 mutations in 486 Chinese patients with congenital heart disease.

Zhang W et al.

European Journal of Medical Genetics, 0

Mutational analysis of the GATA4 gene in Chinese men with nonobstructive azoospermia.

Zhang X et al.

Asian Journal of Andrology, 0

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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."