Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G234D
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FBN1

NM_000138.5:p.G234D

Associated Papers

Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.

Kimura K et al.

Circulation Research, 2025

Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.

Hossain AS et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2025

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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."