Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A66T
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GATA4

NM_001308093.3:p.A66T

Associated Papers

Gene expression and transcriptional regulation driven by transcription factors involved in congenital heart defects.

Mubeen H et al.

Irish Journal of Medical Science, 2023

Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients.

Wu B et al.

Heart and Vessels, 2021

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.

Soheili F et al.

Congenital Heart Disease, 2018

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

Liu Y et al.

Pediatric Cardiology, 2017

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

Zhang X et al.

Plos One, 2016

27391137 (PubMed )
Supplement: pone.0158904.s003.pdf

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Prendiville T et al.

Cold Spring Harbor Perspectives in Medicine, 2014

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

Wang E et al.

Plos One, 2013

Novel GATA4 mutations in patients with congenital ventricular septal defects.

Yang YQ et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

A novel GATA4 mutation responsible for congenital ventricular septal defects.

Wang J et al.

International Journal of Molecular Medicine, 2011

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 Chinese patients with congenital cardiac septal defects.

Chen MW et al.

Pediatric Cardiology, 2010

[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients].

Chen MW et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 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."