Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.K490E
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TGFBR1

NM_004612.4:p.K490E

Associated Papers

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.

Asokan KL et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Tudini E et al.

American Journal of Human Genetics, 2022

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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."