Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P34L
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UGT1A1

NM_000463.3:p.P34L

Associated Papers

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM et al.

Journal of Clinical Medicine, 2026

41753033 (PubMed )
Supplement: jcm-15-01345-s001.zip › jcm-4040495-supplementary.pdf

Molecular basis of β thalassemia and potential therapeutic targets.

Thein SL

Blood Cells, Molecules & Diseases, 2018

Gilbert syndrome associated with beta-thalassemia.

Tzetis M et al.

Pediatric Hematology and Oncology, 2001

Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

Weatherall DJ

Nature Reviews. Genetics, 2001

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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."