Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.G125delFs
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TBX5

NM_181486.4:p.G125delFs

Associated Papers

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Varela D et al.

Molecular Genetics and Genomics : Mgg, 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

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."