Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.R358C
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DDC

NM_001082971.2:p.R358C

Associated Papers

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Gowda VK et al.

Brain & Development, 2025

A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.

Kumar SB et al.

Journal of Biomolecular Structure & Dynamics, 2025

38193892 (PubMed )
Supplement: supplement_1.xlsx › S1

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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