Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S343L
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UGT1A1

NM_000463.3:p.S343L

Associated Papers

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL et al.

Hepatology (baltimore, Md.), 2017

28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf

Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

Galehdari H et al.

International Journal of Molecular Epidemiology and Genetics, 2013

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Rahim F et al.

Genetics Research International, 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."