Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q288_E289Splc
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UGT1A1

NM_000463.3:p.Q288_E289Splc

Associated Papers

Identification of ADME genes polymorphic variants linked to trastuzumab-induced cardiotoxicity in breast cancer patients: Case series of mono-institutional experience.

Staropoli N et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2024

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

Gailite L et al.

Frontiers in Genetics, 2020

Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.

Gailite L et al.

Bmc Pediatrics, 2018

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.

Rodrigues C et al.

Human Mutation, 2015

26377032 (PubMed )
Supplement: supplement_1.pdf

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."