Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
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DOI: 10.1136/jmedgenet-2021-108065
Abstract: Background Primary 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), recruiting National Health Service… read more here.
Keywords: caused ciliopathies; 100 000; genomes project; malformations caused ... See more keywords