Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.I948T
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DPYD

NM_000110.4:p.I948T

Associated Papers

Clinical Implementation of Rare and Novel DPYD Variants for Personalizing Fluoropyrimidine Treatment: Challenges and Opportunities.

De Mattia E et al.

International Journal of Biological Sciences, 2024

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

Dihydropyrimidine dehydrogenase in the metabolism of the anticancer drugs.

Sharma V et al.

Cancer Chemotherapy and Pharmacology, 2019

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.

Coenen MJH et al.

Current Therapeutic Research, Clinical and Experimental, 2019

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

van Kuilenburg AB et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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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."