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Assessment of burden and segregation profiles of CNVs in patients with epilepsy

OBJECTIVE: Microdeletions are associated with different forms of epilepsy but show incomplete penetrance, which is not well understood. We aimed to assess whether unmasked variants or double CNVs could explain incomplete penetrance. METHODS: We analyzed copy number variants (CNVs) in 603 patients wi...

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Detalles Bibliográficos
Autores principales:	Moreau, Claudia, Tremblay, Frédérique, Wolking, Stefan, Girard, Alexandre, Laprise, Catherine, Hamdan, Fadi F., Michaud, Jacques L., Minassian, Berge A., Cossette, Patrick, Girard, Simon L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268881/ https://www.ncbi.nlm.nih.gov/pubmed/35678011 http://dx.doi.org/10.1002/acn3.51598

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