Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.M83fs
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TBX5

NM_181486.4:p.M83fs

Associated Papers

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

da Rocha LA et al.

Clinical Genetics, 2021

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

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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."