Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.T262M
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TBX20

NM_001077653.2:p.T262M

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

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Tu LT et al.

Diagnostics (basel, Switzerland), 2025

A novel de novo TBX20 variant in a 6-year-old Chinese girl with left ventricular noncompaction: a case report.

Zuo MY et al.

Translational Pediatrics, 2022

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Jiang X et al.

Frontiers in Cell and Developmental Biology, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Untangling the Biology of Genetic Cardiomyopathies with Pluripotent Stem Cell Disease Models.

Buikema JW et al.

Current Cardiology Reports, 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

iPSC-derived cardiomyocytes reveal abnormal TGF-β signalling in left ventricular non-compaction cardiomyopathy.

Kodo K et al.

Nature Cell Biology, 2016

TBX20 loss-of-function mutation contributes to double outlet right ventricle.

Pan Y et al.

International Journal of Molecular Medicine, 2015

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."