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Presence of epilepsy-associated variants in large exome databases

Mutations in more than twenty genes have been found to cause idiopathic epilepsies, and screening for these variants could facilitate the clinical diagnosis of epilepsy. However, many of the studies that reported putative pathogenic variants for epilepsy tested a relatively small number of control s...

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Detalhes bibliográficos
Main Authors: Cherepanova, Natalya S., Leslie, Elizabeth, Ferguson, Polly J., Bamshad, Michael J., Bassuk, Alexander G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3672316/
https://ncbi.nlm.nih.gov/pubmed/23527921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/01677063.2013.772176
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