Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R539W
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FBN1

NM_000138.5:p.R539W

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

Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.

Adolfsson E et al.

International Journal of Legal Medicine, 2023

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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."