Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.F212S
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QDPR

NM_000320.3:p.F212S

Associated Papers

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Ray S et al.

Metabolic Brain Disease, 2022

Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.

Lokhande RV et al.

Indian Journal of Pediatrics, 2021

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.

Lourenço CM et al.

Jimd Reports, 2021

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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."