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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