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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD3

Variant:p.S236del1

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SMAD3

NM_005902.4:p.S236del1

hg38:chr15:67181286 TCTC>T

Associated Papers

Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

Nagao T et al.

Taiwanese Journal of Obstetrics & Gynecology, 2024

38485319 (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."