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gene variant curation
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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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Molecular genetics and metabolism, 137 (2022), 4, Seite 359-381
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Klinikum der Universität Heidelberg
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Blau, Nenad
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Carducci, Carla
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Garbade, Sven
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AADC
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dopa decarboxylase
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gene variant curation
locus-specific database
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neurotransmitter deficiency
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pathogenicity
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