Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.D92V
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DDC

NM_001082971.2:p.D92V

Associated Papers

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

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

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

Spitz MA et al.

Jimd Reports, 2017

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

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

Montioli R et al.

Journal of Inherited Metabolic Disease, 2011

Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.

Wassenberg T et al.

Molecular Genetics and Metabolism, 2010

Unusually mild phenotype of AADC deficiency in 2 siblings.

Tay SK et al.

Molecular Genetics and Metabolism, 2007

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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."