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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBR1

Variant:p.A246T

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TGFBR1

NM_004612.4:p.A246T

hg38:chr9:99138020 G>A

Associated Papers

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.

De Cario R et al.

Journal of Vascular Surgery, 2018

28847661 (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."