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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female...

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Detalles Bibliográficos
Autores principales:	Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Landes Bioscience 2013
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932847/ https://www.ncbi.nlm.nih.gov/pubmed/25003006 http://dx.doi.org/10.4161/rdis.26314

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