Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.K266delFs
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TBX5

NM_181486.4:p.K266delFs

Associated Papers

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

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."