Associated Papers
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
40169830 (PubMed )
Supplement: 41431_2025_1826_MOESM3_ESM.xlsx › Supplementary_Table_2
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
Yoo EH et al.
Clinical Genetics, 2010
Select a paper to view details