Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
| Autor: | Khalifa, Mohamed, Naffaa, Lena |
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| Zdroj: | In European Journal of Medical Genetics August 2015 58(8):381-386 |
| Databáze: | ScienceDirect |
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