Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S163I
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QDPR

NM_000320.3:p.S163I

Associated Papers

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Ray S et al.

Metabolic Brain Disease, 2022

Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.

Gowda VK et al.

Indian Journal of Pediatrics, 2018

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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."