Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.E243delFs
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TBX5

NM_181486.4:p.E243delFs

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

The human TBX5 gene mutation database.

Heinritz W et al.

Human Mutation, 2005

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD et al.

Current Opinion in Cardiology, 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."