Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.A63T
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TBX20

NM_001077653.2:p.A63T

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

Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.

Taha M et al.

Gene, 2023

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › found_rows_58_in_KCG

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants

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

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."