Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P392L
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UGT1A1

NM_000463.3:p.P392L

Associated Papers

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Genomes_LOF

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

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

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

Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.

Fata CR et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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