Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Y332F
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DDC

NM_001082971.2:p.Y332F

Associated Papers

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

Montioli R et al.

Journal of Inherited Metabolic Disease, 2011

Functionally important residues of aromatic L-amino acid decarboxylase probed by sequence alignment and site-directed mutagenesis.

Ishii S et al.

Journal of Biochemistry, 1996

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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."