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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD1

Variant:p.T430I

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SMAD1

NM_005900.3:p.T430I

hg38:chr4:145557825 C>T

Associated Papers

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

Alankarage D et al.

Hgg Advances, 2025

40619738 (PubMed )

Supplement: mmc1.pdf

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