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Open Accesshttps://doi.org/10.1136/jmedgenet-2021-108065
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Oct 29, 2021 |
 Citations: 11 |  License type: open-access |
Affiliation: University of Manchester, NIHR Manchester Biomedical Research Centre, St James's University Hospital, University of Leeds, University of Southampton, Leeds Teaching Hospitals NHS Trust, Genomics England, Queen Mary University of London, Addenbrooke's Hospital, University Hospital Southampton NHS Foundation Trust, Mid Yorkshire Hospitals NHS TrustBackgroundPrimary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL),...
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