Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.N2Y
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DDC

NM_001082971.2:p.N2Y

Associated Papers

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

Park JE et al.

Pediatric Research, 2023

Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.

Lee WT et al.

Human Brain Mapping, 2017

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

Kuo SJ et al.

Taiwanese Journal of Obstetrics & Gynecology, 2011

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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."