Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Y37fs
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DDC

NM_001082971.2:p.Y37fs

Associated Papers

Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.

Passaretti M et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2022

Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.

Di Carlo E et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2021

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V et al.

Jimd Reports, 2015

Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.

Mastrangelo M et al.

Movement Disorders Clinical Practice, 0

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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."