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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD1

Variant:p.R142T

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SMAD1

NM_005900.3:p.R142T

hg38:chr4:145539828 G>C

Associated Papers

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.

Hayvaci Canbeyli F et al.

Pediatric Cardiology, 2026

40180617 (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."