Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.L391P
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DDC

NM_001082971.2:p.L391P

Associated Papers

Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.

Bisello G et al.

Journal of Inherited Metabolic Disease, 2025

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants.

Cursio I et al.

Frontiers in Neurology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."