Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.M74V
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TBX5

NM_181486.4:p.M74V

Associated Papers

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.

Rivera-Madera A et al.

G3 (bethesda, Md.), 2025

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.

Rivera-Madera A et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Debeer P et al.

Clinical Orthopaedics and Related Research, 2007

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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."