Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.L993R
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DPYD

NM_000110.4:p.L993R

Associated Papers

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1

Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.

Sherman CA et al.

Scientific Reports, 2024

39354004 (PubMed )
Supplement: 41598_2024_73748_MOESM8_ESM.xlsx › Sheet1

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1

Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

Ahn SH et al.

Genes, 2024

38674455 (PubMed )
Supplement: genes-15-00521-s001.zip › Supplementary_Table.xls › Table_S1

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Offer SM et al.

Cancer Research, 2014

Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Shin JG et al.

Journal of Korean Medical Science, 2013

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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."