Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R539Q
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FBN1

NM_000138.5:p.R539Q

Associated Papers

Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.

Choi K et al.

Scientific Reports, 2025

40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › FBN1

Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.

Noerenberg D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

38055913 (PubMed )
Supplement: DS3_JCO.23.01053.xlsx › Table_S2.7

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

[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."