Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.Y317*
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TBX20

NM_001077653.2:p.Y317*

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

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

Chang Y et al.

Journal of Medical Genetics, 2024

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

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

Concise Review: The Current State of Human In Vitro Cardiac Disease Modeling: A Focus on Gene Editing and Tissue Engineering.

Hoes MF et al.

Stem Cells Translational Medicine, 2019

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

Buikema JW et al.

Current Cardiology Reports, 2017

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

Kodo K et al.

Nature Cell Biology, 2016

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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."