|
|||||
|
|
CEP290, a gene with many faces: mutation overview and presentation of CEP290base |
|
| Authors: | Frauke Coppieters Steve Lefever Bart P. Leroy Elfride De Baere |
| Affiliation: | 1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium;2. These two authors contributed equally to this work.;3. Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium |
| Abstract: | |
| Keywords: | CEP290 locus‐specific database genotype– phenotype correlations modifiers ciliary proteome |