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    Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Garbade, Sven (Author) , Kopesky, Jeffrey (Author) , Elsea, Sarah H. (Author) , Carducci, Carla (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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    Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability by Anikster, Yair (Author) , Shen, Nan (Author) ,


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