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
Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.
Schütte M et al.
Nature Communications, 2017
28186126 (PubMed )
Supplement: ncomms14262-s8.xlsx › all_discordant_SNVs_Indels
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
Ikebuchi M et al.
Human Mutation, 2000
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