Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E241fs
Back to variants list

UGT1A1

NM_000463.3:p.E241fs

Associated Papers

Case report: Crigler-Najjar syndrome type 1 in Croatia-more than a one in a million: a case series.

Kovačić Perica M et al.

Frontiers in Pediatrics, 2023

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table2.xlsx › Hoja1

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_Exomes_LOF
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."