Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q49*
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UGT1A1

NM_000463.3:p.Q49*

Associated Papers

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

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 syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

Sneitz N et al.

Human Mutation, 2010

Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.

Baudhuin LM et al.

Clinical Biochemistry, 2007

Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus.

Thomas SS et al.

Human Mutation, 2006

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

Kadakol A et al.

Human Mutation, 2000

Implication of genetic variation at the promoter and exon1 of UGT1A1 in occurrence of cholelithiasis in Tunisia.

Chaouch L et al.

Annales De Biologie Clinique, 0

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