Associated Papers
PAnno: A pharmacogenomics annotation tool for clinical genomic testing.
Liu Y et al.
Frontiers in Pharmacology, 2023
36778023 (PubMed )
Supplement: Table2.XLSX › CYP2C19
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_10
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Predicting the functional consequences of genetic variants in co-stimulatory ligand B7-1 using in-silico approaches.
Mathur R et al.
Human Immunology, 2021
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Wakil SM et al.
Disease Markers, 2015
25802476 (PubMed )
Supplement: 542543.f1.xlsx › DMET_Suppl_data
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
25993113 (PubMed )
Supplement: pone.0126263.s002.docx
Pharmacogenetics in Jewish populations.
Yang Y et al.
Drug Metabolism and Drug Interactions, 2014
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2013
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
Petit F et al.
Clinical Genetics, 2006
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