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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Cherepanova, Natalya S., Leslie, Elizabeth, Ferguson, Polly J., Bamshad, Michael J., Bassuk, Alexander G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
Aiheet:
Linkit: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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