Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A7
Variant:p.R254*
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UGT1A7

NM_019077.3:p.R254*

Associated Papers

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

Prevalence of UDP-glucuronosyltransferase polymorphisms (UGT1A6∗2, 1A7∗12, 1A8∗3, 1A9∗3, 2B7∗2, and 2B15∗2) in a Saudi population.

Alkharfy KM et al.

Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2017

Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability.

Strassburg CP et al.

Archives of Toxicology, 2008

Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A).

Strassburg CP et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus.

Thomas SS et al.

Human Mutation, 2006

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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."