Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.E316*
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TBX5

NM_181486.4:p.E316*

Associated Papers

Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.

Li X et al.

Heliyon, 2022

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

Identification of the TBX5 transactivating domain and the nuclear localization signal.

Zaragoza MV et al.

Gene, 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."