Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.I101F
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TBX5

NM_181486.4:p.I101F

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

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y et al.

American Journal of Medical Genetics. Part A, 2015

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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."