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http://repositorio.unicamp.br/jspui/handle/REPOSIP/353595
| Type: | Outros documentos |
| Title: | A comprehensive analysis of missense mutations in scn1a in patients with dravet syndrome improves interpretation of clinically relevant variants |
| Author: | Coelho Gonsales, M. Montenegro, M. A. Guerreiro, M. M. Coan, A. C. Paiva Quast, M. Carvalho, S. B. Lopes-Cendes, I. |
| Abstract: | Interpreting the clinical significance of genetic variants found in molecular tests can be challenging, particularly for variants of unknown significance such as missense mutations. In order to access the rate of success in the classification of missense |
| Subject: | Epilepsia |
| Country: | Estados Unidos |
| Editor: | Wiley |
| Rights: | Fechado |
| Identifier DOI: | 10.1111/epi.13944 |
| Address: | https://onlinelibrary.wiley.com/toc/15281167/2017/58/S5 |
| Date Issue: | 2017 |
| Appears in Collections: | FCM - Artigos e Outros Documentos |
Files in This Item:
| File | Size | Format | |
|---|---|---|---|
| 000417566600074.pdf | 132.24 kB | Adobe PDF | View/Open |
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