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| Repository | University of Melbourne [Minerva Access] |
| URL | http://hdl.handle.net/11343/213973 |
| Author(s) | orcid:0000-0003-0589-0703; orcid:0000-0002-8431-0641; Riley, LG; Menezes, MJ; Rudinger-Thirion, J; Duff, R; de Lonlay, P; Rotig, A; Tchan, MC; Davis, M; Cooper, ST; Christodoulou, J |
| Item type | Article |
| Journal | Orphanet Journal of Rare Diseases, Online_ISSN:1750-1172 |
| DOI | https://doi.org/10.1186/1750-1172-8-193 |
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