Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A74D
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GATA4

NM_001308093.3:p.A74D

Associated Papers

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

39285472 (PubMed )
Supplement: 13293_2024_648_MOESM2_ESM.xlsx › Table_S2

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

Mubeen H et al.

Irish Journal of Medical Science, 2023

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

Li Y et al.

American Journal of Translational Research, 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

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

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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."