Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q239*
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UGT1A1

NM_000463.3:p.Q239*

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Crigler Najjar syndrome type II with severe jaundice as a new subtype(?) : A rare case report.

Li X et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

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

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

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

Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China.

Nong SH et al.

Journal of Paediatrics and Child Health, 0

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