Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.S125*
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TBX20

NM_001077653.2:p.S125*

Associated Papers

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Chang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic Valve.

Li YJ et al.

Diagnostics (basel, Switzerland), 2025

TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.

Chang Y et al.

Journal of Medical Genetics, 2024

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.

Walsh R

Journal of Cardiovascular Translational Research, 2023

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

Luyckx I et al.

European Journal of Human Genetics : Ejhg, 2019

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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."