Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1097Y
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FBN1

NM_000138.5:p.C1097Y

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

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Becerra-Muñoz VM et al.

Orphanet Journal of Rare Diseases, 2018

[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."