Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.K226N
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TBX5

NM_181486.4:p.K226N

Associated Papers

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM et al.

Saudi Medical Journal, 2015

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM et al.

Gene, 2015

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

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

Porto MP et al.

Genetics and Molecular Biology, 2010

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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."