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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Brain
Päätekijät: Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7364765/
https://ncbi.nlm.nih.gov/pubmed/32568404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa171
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