Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.G18C
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QDPR

NM_000320.3:p.G18C

Associated Papers

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.

Ishikawa T et al.

Human Molecular Genetics, 2016

Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.

Furujo M et al.

Epilepsy & Behavior Case Reports, 2014

Parkinsonism in Association with Dihydropteridine Reductase Deficiency.

Takahashi Y et al.

Case Reports in Neurology, 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."