Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
| Autor: | Antoniadi, Thalia1, Buxton, Chris1, Dennis, Gemma1, Forrester, Natalie1, Smith, Debbie1, Lunt, Peter2, Burton-Jones, Sarah1 sarah.burton-jones@nbt.nhs.uk |
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| Zdroj: | BMC Medical Genetics. 9/22/2015, Vol. 16 Issue 1, p1-11. 11p. |
| Databáze: | Academic Search Ultimate |
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