Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.H203_K211del0
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UGT1A1

NM_000463.3:p.H203_K211del0

Associated Papers

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM et al.

The Journal of Pediatrics, 2013

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

Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.

Costa E et al.

Human Genetics, 2008

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

Costa E et al.

Blood Cells, Molecules & Diseases, 0

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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."