Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P132S
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TBX5

NM_181486.4:p.P132S

Associated Papers

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Dreßen M et al.

Molecular Genetics & Genomic Medicine, 2016

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Guo DF et al.

Molecular Medicine Reports, 2016

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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."