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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD6

Variant:p.R17delFs

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SMAD6

NM_005585.5:p.R17delFs

hg38:chr15:66703307 CG>C

Associated Papers

New genetic drivers in hemorrhagic hereditary telangiectasia.

Cerdà P et al.

European Journal of Internal Medicine, 2024

37689549 (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."