Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.L38P
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DDC

NM_001082971.2:p.L38P

Associated Papers

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

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

Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.

Wang H et al.

Frontiers in Neurology, 2022

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

Montioli R et al.

International Journal of Molecular Sciences, 2021

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.

Montioli R et al.

Human Molecular Genetics, 2014

Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview.

Cellini B et al.

The Open Biochemistry Journal, 2012

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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."