Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.W283*
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GATA4

NM_001308093.3:p.W283*

Associated Papers

Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report.

Howat J et al.

European Journal of Medical Genetics, 2025

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

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

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3

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

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Yu L et al.

Human Genetics, 2013

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ et al.

American Journal of Medical Genetics. Part A, 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."