Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.R759*
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DPYD

NM_000110.4:p.R759*

Associated Papers

Rare variants and founder effect in the Beauce region of Quebec.

Gagnon M et al.

Communications Biology, 2025

40781540 (PubMed )
Supplement: 42003_2025_8630_MOESM2_ESM.xlsx › Beauce_variants

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_8.xlsx › SuppData_8

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

Zhou Y et al.

British Journal of Cancer, 2020

32973300 (PubMed )
Supplement: 41416_2020_1084_MOESM1_ESM.xlsx › Sheet1

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

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 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."