Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.I121F
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TBX20

NM_001077653.2:p.I121F

Associated Papers

The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study.

Liu C et al.

Cardiology, 2025

Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.

Taha M et al.

Gene, 2023

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

Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.

Sen A et al.

Molecular Genetics and Genomics : Mgg, 2010

T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.

Liu C et al.

European Journal of Medical Genetics, 0

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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."