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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with s...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Bennett, Caitlin A., Petrovski, Slavé, Oliver, Karen L., Berkovic, Samuel F.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5503456/
https://ncbi.nlm.nih.gov/pubmed/28717674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000163
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