Associated Papers
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.
Li Y et al.
Journal of Zhejiang University. Science. B, 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
Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.
Galehdari H et al.
International Journal of Molecular Epidemiology and Genetics, 2013
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.
Rahim F et al.
Genetics Research International, 2013
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.
Rodrigues C et al.
Blood Cells, Molecules & Diseases, 2012
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