Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia
| Autor: | Ravel, Jean-Marie, Michaud, Maud, Frismand, Solène, Puisieux, Salomé, Banneau, Guillaume, Benoist, Jean-François, Lambert, Laëtitia, Bonnet, Céline, Renaud, Mathilde |
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| Zdroj: | In Parkinsonism and Related Disorders April 2023 109 |
| Databáze: | ScienceDirect |
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