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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L. Drackley A, et al. Among authors: guo d. Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. Genome Med. 2024. PMID: 39741318 Free PMC article.
7,844 results