Varaico: Literature-Extracted Genetic Variants

Gene:OMD
Variant:p.L60S
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OMD

NM_005014.3:p.L60S

Associated Papers

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H et al.

Journal of Inherited Metabolic Disease, 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."