Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. ABSTRACT BACKGROUND: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular …