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Genetic Testing Requires NGS and Sanger Methodologies

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

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Detalhes bibliográficos
Publicado no:Pediatr Neurol Briefs
Main Authors: Jennings, Lawrence J., Kirschmann, Dawn
Formato: Artigo
Idioma:Inglês
Publicado em: Pediatric Neurology Briefs Publishers 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027035/
https://ncbi.nlm.nih.gov/pubmed/27651130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15844/pedneurbriefs-30-9-1
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