Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R481_T482Splc
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DPYS

NM_001385.3:p.R481_T482Splc

Associated Papers

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.

Albokhari D et al.

Cold Spring Harbor Molecular Case Studies, 2023

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Functional characterization of 21 allelic variants of dihydropyrimidinase.

Hishinuma E et al.

Biochemical Pharmacology, 2017

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

Nakajima Y et al.

International Journal of Molecular Sciences, 2016

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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."