articleNature GeneticsMay 26, 2013GREEN OA

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

GLGemma L. CarvillSBSinéad B. HeavinSCSimone C. YendleJMJacinta M. McMahonBJBrian J. O’Roak

University of Washington · The University of Melbourne · +19 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

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Topics & keywords

Topics
Keywords
  • Biology
  • Cohort
  • Genetics
  • Phenotype
  • Mutation
  • Etiology
  • Epilepsy
  • Massive parallel sequencing
UN Sustainable Development Goals
  • No poverty
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