Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.W121G
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TBX5

NM_181486.4:p.W121G

Associated Papers

The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.

Waldron L et al.

Developmental Cell, 2016

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM et al.

Saudi Medical Journal, 2015

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM et al.

Gene, 2015

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Yamak A et al.

The Journal of Biological Chemistry, 2015

Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

Stirnimann CU et al.

Journal of Molecular Biology, 2010

Molecular genetics of congenital atrial septal defects.

Posch MG et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010

T-box genes and congenital heart/limb malformations.

Isphording D et al.

Clinical Genetics, 2004

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD et al.

Current Opinion in Cardiology, 2004

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Brassington AM et al.

American Journal of Human Genetics, 2003

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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."