Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.R311C
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TBX20

NM_001077653.2:p.R311C

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

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation.

Li N et al.

Biology, 2023

Regulation of cardiac ion channels by transcription factors: Looking for new opportunities of druggable targets for the treatment of arrhythmias.

Crespo-García T et al.

Biochemical Pharmacology, 2022

The Role of Tbx20 in Cardiovascular Development and Function.

Chen Y et al.

Frontiers in Cell and Developmental Biology, 2021

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

Caballero R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

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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."