Varaico: Literature-Extracted Genetic Variants

Gene:FBLN1
Variant:p.L347V
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FBLN1

NM_006486.3:p.L347V

Associated Papers

Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome.

Oller J et al.

Nature Medicine, 2017

Elastic fibres in health and disease.

Baldwin AK et al.

Expert Reviews in Molecular Medicine, 2013

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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."