|
|||||
|
|
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome |
|
| Authors: | Judy Savige Elisabet Ars Richard G. H. Cotton David Crockett Hayat Dagher Constantinos Deltas Jie Ding Frances Flinter Genevieve Pont-Kingdon Nizar Smaoui Roser Torra Helen Storey |
| Affiliation: | 1. Department of Medicine (Northern Health), The University of Melbourne, Epping, VIC, Australia 11. The University of Melbourne (AH/NH), The Northern Hospital, Cooper, Epping, VIC, 3076, Australia 2. Nephrology Department, Fundacio Puigvert, Barcelona, Spain 3. Human Variome Project, The University of Melbourne, Parkville, VIC, Australia 4. ARUP Laboratories, ARUP Institute of Clinical and Experimental Pathology, Salt Lake City, UT, USA 5. Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus 6. Pediatric Department, Peking University First Hospital, Beijing, China 7. Department of Clinical Genetics, Guy’s and St Thomas’ NHS Trust Foundation, London, UK 8. GeneDx, Gaithersburg, MD, USA 9. Molecular Biology Laboratory, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain 10. GSTS Pathology, Guy’s and St Thomas’ NHS Trust Foundation, London, UK |
| Abstract: | |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |