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Novel and de novo mutations in pediatric refractory epilepsy
Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results f...
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| 出版年: | Mol Brain |
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| 主要な著者: | , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6125990/ https://ncbi.nlm.nih.gov/pubmed/30185235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-018-0392-5 |
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