Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.E360G
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GATA4

NM_001308093.3:p.E360G

Associated Papers

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Zhou Y et al.

Science Advances, 2025

41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s1.xlsx › Table_S1

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

Mubeen H et al.

Irish Journal of Medical Science, 2023

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

23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations
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