Associated Papers
Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.
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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
Functional characterization of 21 allelic variants of dihydropyrimidinase.
Hishinuma E et al.
Biochemical Pharmacology, 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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