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
37684520 (PubMed )
Supplement: 41431_2023_1455_MOESM4_ESM.xlsx › FBN1_variants
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC et al.
Annals of Human Genetics, 2009
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