Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.K88*
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TBX5

NM_181486.4:p.K88*

Associated Papers

Genomic and physiological analyses of the zebrafish atrioventricular canal reveal molecular building blocks of the secondary pacemaker region.

Abu Nahia K et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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

Holt-Oram syndrome associated with anomalies of the feet.

Garavelli L et al.

American Journal of Medical Genetics. Part A, 2008

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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."