A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary non-motile cilia. There are around 200 known ciliopathy disease genes and whilst genetic testing can provide an accurate diagnosis, 24–60% of cili...

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Detalles Bibliográficos
Autores principales: Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981318/
https://www.ncbi.nlm.nih.gov/pubmed/33095315
http://dx.doi.org/10.1007/s00439-020-02228-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981318/
https://www.ncbi.nlm.nih.gov/pubmed/33095315
http://dx.doi.org/10.1007/s00439-020-02228-1

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