Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.R284H
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GATA4

NM_002052.5:p.R284H

Associated Papers

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Forbes CA et al.

Human Genomics, 2026

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

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Shimizu D et al.

Clinical Case Reports, 2018

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

El Malti R et al.

European Journal of Human Genetics : Ejhg, 2016

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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."