Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.C397Y
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TGFBR1

NM_001130916.3:p.C397Y

Associated Papers

Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a single TGFBR1 variant, two phenotypes in one patient.

Moeris E et al.

Bmj Case Reports, 2025

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

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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."