Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.H70Y
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DDC

NM_001082971.2:p.H70Y

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

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

Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.

Rizzi S et al.

Behavioural Neurology, 2022

36268467 (PubMed )
Supplement: 2210555.f1.zip › Suppl_table_1AAD.pdf

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

Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation.

Gücüyener K et al.

Annals of Indian Academy of Neurology, 2014

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