Article
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Human mutation - 1 Dec 2015
Rodrigues Carina, Santos-Silva Alice, Costa Elísio, Bronze-da-Rocha Elsa
Abstract excerpt
Variations in the gene encoding uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) are particularly important because they have been associated with hyperbilirubinemia in Gilbert's and Crigler-Najjar syndromes as well as with changes in drug metabolism. Several variants associated with these phenotypes are nonsynonymous single-nucleotide polymorphisms (nsSNPs). Bioinformatics approaches have gained...
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