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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD5

Variant:p.E401delFs

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SMAD5

NM_005903.7:p.E401delFs

hg38:chr5:136174579 GA>G

Associated Papers

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Alankarage D et al.

Hgg Advances, 2025

40619738 (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."