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Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity

Although the clinical use of targeted gene sequencing-based diagnostics is valuable, whole-exome sequencing has also emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. Molecular genetic tests for episodic ataxia type 2 (EA2) usually target only the specific calcium...

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Detalles Bibliográficos
Autores principales:	Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Sampaio, Hugo, Griffiths, Lyn R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213185/ https://www.ncbi.nlm.nih.gov/pubmed/30314295 http://dx.doi.org/10.3390/ijms19103113

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