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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX5

Variant:p.R81Splc

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TBX5

NM_181486.4:p.R81Splc

hg38:chr12:114401819 A>G

Associated Papers

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Reamon-Buettner SM et al.

Human Mutation, 2004

15221798 (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."