Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.L65delFs
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TBX5

NM_181486.4:p.L65delFs

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

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

Atik T et al.

Journal of Tropical Pediatrics, 2014

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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."