Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.R113K
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TBX5

NM_181486.4:p.R113K

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

Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.

Mahfuz AMUB et al.

Biochemistry and Biophysics Reports, 2021

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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."