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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD6

Variant:p.A100T

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SMAD6

NM_005585.5:p.A100T

hg38:chr15:66703556 G>A

Associated Papers

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

Girdauskas E et al.

European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2017

28387797 (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."