Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.T280I
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GATA4

NM_001308093.3:p.T280I

Associated Papers

Patient-specific iPSC-derived cardiomyocytes reveal abnormal regulation of FGF16 in a familial atrial septal defect.

Ye L et al.

Cardiovascular Research, 2022

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

A novel mutation of GATA4 in a familial atrial septal defect.

Chen Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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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."