Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.R412fs
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DDC

NM_001082971.2:p.R412fs

Associated Papers

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

Park JE et al.

Pediatric Research, 2023

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › DDC_Short_Variant_Pathogenetic

Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.

Hyland K et al.

Pediatric Neurology, 2020

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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."