Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.W267*
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DDC

NM_001082971.2:p.W267*

Associated Papers

Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.

Park JE et al.

Pediatric Research, 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

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
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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."