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
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K et al.
American Journal of Medical Genetics. Part A, 2016
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 0
Select a paper to view details