Publication
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the
FBN1
Gene for Marfan Syndrome
Proposal for a Disease- and Gene-Specific Guideline
Laura Muiño-Mosquera, Felke Steijns, Tjorven Audenaert, Ilse Meerschaut, Anne De Paepe, Wouter Steyaert, Sofie Symoens, Paul Coucke, Bert Callewaert, Marjolijn Renard, Julie De Backer
Circulation Genomic and Precision Medicine, June 2018, Wolters Kluwer Health
DOI: 10.1161/circgen.117.002039