Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.R237W
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CHDH

NM_018397.5:p.R237W

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

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Reamon-Buettner SM et al.

Journal of Medical Genetics, 2004

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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."