Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.Y2149C
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FBN1

NM_000138.5:p.Y2149C

Associated Papers

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.

Klemenzdottir EO et al.

European Journal of Human Genetics : Ejhg, 2024

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Yang H et al.

Scientific Reports, 2016

[Marfan's syndrome in Iceland.].

Einarsson EO et al.

Laeknabladid, 1996

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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."