Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.H186D
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TBX20

NM_001077653.2:p.H186D

Associated Papers

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

Mastromoro G et al.

American Journal of Medical Genetics. Part A, 2025

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

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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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."