A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
| Autor: | Bonati, Maria Teresa, Verde, Federico, Hladnik, Uros, Cattelan, Paola, Campana, Luca, Castronovo, Chiara, Ticozzi, Nicola, Maderna, Luca, Colombrita, Claudia, Papa, Sergio, Banfi, Paolo, Silani, Vincenzo |
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| Zdroj: | In Molecular Genetics and Metabolism Reports December 2017 13:14-17 |
| Databáze: | ScienceDirect |
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