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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

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 (NHS) patients with eligible rare diseases and cancer....

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Detalles Bibliográficos
Autores principales:	Best, Sunayna, Lord, Jenny, Roche, Matthew, Watson, Christopher M, Poulter, James A, Bevers, Roel P J, Stuckey, Alex, Szymanska, Katarzyna, Ellingford, Jamie M, Carmichael, Jenny, Brittain, Helen, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A, Wheway, Gabrielle
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Diagnostics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340050/ https://www.ncbi.nlm.nih.gov/pubmed/34716235 http://dx.doi.org/10.1136/jmedgenet-2021-108065

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