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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX5

Variant:p.G238insFs

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TBX5

NM_181486.4:p.G238insFs

hg38:chr12:114385517 G>GC

Associated Papers

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Vanlerberghe C et al.

European Journal of Human Genetics : Ejhg, 2019

30552424 (PubMed )

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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."