Varaico: Literature-Extracted Genetic Variants

Gene:OMD
Variant:p.S347N
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OMD

NM_005014.3:p.S347N

Associated Papers

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

Park JE et al.

Pediatric Research, 2023

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

Hyland K et al.

Pediatric Neurology, 2020

Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.

Dai W et al.

Molecular Genetics & Genomic Medicine, 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."