Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.F238_M239Splc
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DDC

NM_001082971.2:p.F238_M239Splc

Associated Papers

Aromatic l-amino acid decarboxylase deficiency in Taiwan.

Hwu WL et al.

Jimd Reports, 2023

Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.

Chen PW et al.

Molecular Genetics and Metabolism, 0

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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."