Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.G435R
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DPYS

NM_001385.3:p.G435R

Associated Papers

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

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

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

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Functional characterization of 21 allelic variants of dihydropyrimidinase.

Hishinuma E et al.

Biochemical Pharmacology, 2017

Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.

Chang HS et al.

Jimd Reports, 2012

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

Hamajima N et al.

American Journal of Human Genetics, 1998

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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."