Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Congress activities | Society for Inherited Metabolic Disorders (SIMD) | SIMD 2022 poster: The DDC locus-specific database of variants causing aromatic amino acids decarboxylase (AADC) deficiency

SIMD 2022 poster: The DDC locus-specific database of variants causing aromatic amino acids decarboxylase (AADC) deficiency

This poster, presented at the 2022 SIMD annual meeting, introduces a locus-specific database for the variants in the DDC gene that lead to the symptoms of AADC deficiency

  • Understand the rationale for collecting information on the genotype of a patient with AADC deficiency
  • Learn more about the distinct types of coding variants of the DDC gene and their impact on disease phenotype
  • Find out about the role of in silico variant interpretation tools and structural 3D modeling in identifying different variants of the gene, especially with regard to variants of uncertain significance
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MED-ALL-AADC-2200063 | July 2022
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