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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD7

Variant:p.L198insFs

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SMAD7

NM_005904.4:p.L198insFs

hg38:chr18:48949832 A>AG

Associated Papers

Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

Karl S et al.

Npj Genomic Medicine, 2025

40133303 (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."