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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD3

Variant:p.E239Q

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SMAD3

NM_005902.4:p.E239Q

hg38:chr15:67181297 G>C

Associated Papers

Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.

Wong JJ et al.

Practical Neurology, 2026

40639958 (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."