Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.F251S
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DDC

NM_001082971.2:p.F251S

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

Aromatic l-amino acid decarboxylase deficiency in Taiwan.

Hwu WL et al.

Jimd Reports, 2023

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Himmelreich N et al.

Molecular Genetics and Metabolism, 2023

Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.

Bisello G et al.

Protein Science : a Publication of the Protein Society, 2023

37466248 (PubMed )
Supplement: PRO-32-e4732-s002.docx

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Himmelreich N et al.

Molecular Genetics and Metabolism, 2023

Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.

Montioli R et al.

International Journal of Molecular Sciences, 2021

New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.

Montioli R et al.

Archives of Biochemistry and Biophysics, 2020

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.

Lee NC et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Chien YH et al.

Molecular Genetics and Metabolism, 2016

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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."