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Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

Parkinsonism & related disorders - 1 Apr 2023

Ravel Jean-Marie, Michaud Maud, Frismand Solène, Puisieux Salomé, Banneau Guillaume, Benoist Jean-François, Lambert Laëtitia, Bonnet Céline, Renaud Mathilde

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PMID: 36803911
DOI: 10.1016/j.parkreldis.2023.105310

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