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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
PURPOSE: As part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation. METHODS: We compiled and analyzed exome sequenc...
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| 發表在: | Genet Med |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5823708/ https://ncbi.nlm.nih.gov/pubmed/29121005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.100 |
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