Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G234V
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FBN1

NM_000138.5:p.G234V

Associated Papers

Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.

Kimura K et al.

Circulation Research, 2025

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Tan L et al.

Human Molecular Genetics, 2017

A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture.

Rasmussen M et al.

Danish Medical Journal, 2014

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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."