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Get Free AccessEstablishing specific adaptations for FBN1 has provided a framework to foster greater classification concordance among clinical laboratories, ultimately improving clinical care for patients with Marfan syndrome.
Andy Drackley, Chris Somerville, Pauline Arnaud, Linnea M. Baudhuin, Nadine Hanna, Michelle L. Kluge, Katrina E. Kotzer, Cathérine Boileau, Lucas Bronicki, Bert Callewaert, Alessandro Cecchi, Hal Dietz, Dongchuan Guo, Stephen Harris, Olga Jarinova, Mark A. Lindsay, Leichelle Little, Bart Loeys, Gretchen MacCarrick, J. Meester, Dianna M. Milewicz, Takayuki Morisaki, Hiroko Morisaki, Daniel Murdock, Marjolijn Renard, Jennifer K. Richer, Leema Robert, Maral Ouzounian, Lut Van Laer, Julie De Backer, Laura Muiño Mosquera (2024). Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel. , 16(1), DOI: https://doi.org/10.1186/s13073-024-01423-3.
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Type
Article
Year
2024
Authors
31
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.1186/s13073-024-01423-3
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