Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.P43delFs
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DDC

NM_001082971.2:p.P43delFs

Associated Papers

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Tokatly Latzer I et al.

Human Genetics, 2023

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Latzer IT et al.

Research Square, 2023

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

Hyland K et al.

Pediatric Neurology, 2020

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."