Nalaganje...
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...
Shranjeno v:
| izdano v: | Genet Med |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2018
|
| Teme: | |
| Online dostop: | 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 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|