Associated Papers
Structural and functional assessment of TBX20 gene variants in pediatric ventricular septal defect.
Qin Z et al.
Hereditas, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.
Paolucci M et al.
Genes, 2021
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.
Huang RT et al.
International Journal of Medical Sciences, 2017
TBX20 loss-of-function mutation contributes to double outlet right ventricle.
Pan Y et al.
International Journal of Molecular Medicine, 2015
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
Liu JJ et al.
Journal of Zhejiang University. Science. B, 2014
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
Töpf A et al.
Plos One, 2014
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch MG et al.
Journal of Medical Genetics, 2010
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
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