Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.T343A
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DPYS

NM_001385.3:p.T343A

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

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

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Nakajima Y et al.

Molecular Genetics and Metabolism, 2017

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB et al.

Biochimica Et Biophysica Acta, 0

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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."