Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.D176N
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TBX20

NM_001077653.2:p.D176N

Associated Papers

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

Chang Y et al.

Journal of Medical Genetics, 2024

Familial cardiac septal defect due to a novel nine-base deletion in TBX20.

Yamamoto H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.

Chen L et al.

Journal of Biomedical Research, 2018

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Blue GM et al.

Journal of the American College of Cardiology, 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

The Increasing Importance of Gene-Based Analyses.

Cirulli ET

Plos Genetics, 2016

27055023 (PubMed )
Supplement: pgen.1005852.s006.xlsx › 745papers

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

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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."